NM_003097.6(SNRPN):c.647C>T (p.Pro216Leu) AND not provided
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 7, 2023
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV004729577.1
Allele description [Variation Report for NM_003097.6(SNRPN):c.647C>T (p.Pro216Leu)]
NM_003097.6(SNRPN):c.647C>T (p.Pro216Leu)
- Genes:
- SNURF:SNRPN upstream open reading frame [Gene - HGNC]
SNRPN:small nuclear ribonucleoprotein polypeptide N [Gene - OMIM - HGNC]
SNHG14:small nucleolar RNA host gene 14 [Gene - OMIM - HGNC] - Variant type:
- single nucleotide variant
- Cytogenetic location:
- 15q11.2
- Genomic location:
- Preferred name:
- NM_003097.6(SNRPN):c.647C>T (p.Pro216Leu)
- HGVS:
- NC_000015.10:g.24978280C>T
- NG_012958.1:g.159634C>T
- NG_042862.1:g.1287C>T
- NM_001349454.2:c.647C>T
- NM_001349455.2:c.647C>T
- NM_001349456.2:c.647C>T
- NM_001349457.2:c.647C>T
- NM_001349458.2:c.647C>T
- NM_001349459.2:c.647C>T
- NM_001349460.2:c.647C>T
- NM_001349461.2:c.647C>T
- NM_001349462.2:c.647C>T
- NM_001349463.2:c.647C>T
- NM_001349464.2:c.647C>T
- NM_001349465.2:c.647C>T
- NM_001378249.1:c.647C>T
- NM_001378251.1:c.659C>T
- NM_001378252.1:c.659C>T
- NM_001378253.1:c.659C>T
- NM_001378254.1:c.659C>T
- NM_001378255.1:c.659C>T
- NM_001378256.1:c.623C>T
- NM_001378257.1:c.623C>T
- NM_001400634.1:c.647C>T
- NM_001400635.1:c.647C>T
- NM_001400636.1:c.647C>T
- NM_001400637.1:c.647C>T
- NM_001400638.1:c.647C>T
- NM_001400639.1:c.647C>T
- NM_001400640.1:c.647C>T
- NM_001400641.1:c.647C>T
- NM_001400643.1:c.647C>T
- NM_001400644.1:c.647C>T
- NM_001400646.1:c.647C>T
- NM_001400647.1:c.647C>T
- NM_001400649.1:c.647C>T
- NM_001400650.1:c.647C>T
- NM_001400652.1:c.647C>T
- NM_001400683.1:c.647C>T
- NM_001400684.1:c.647C>T
- NM_001400685.1:c.647C>T
- NM_001400686.1:c.647C>T
- NM_001400687.1:c.647C>T
- NM_001400688.1:c.647C>T
- NM_001400689.1:c.647C>T
- NM_001400690.1:c.647C>T
- NM_001400691.1:c.647C>T
- NM_001400692.1:c.647C>T
- NM_001400693.1:c.647C>T
- NM_001400694.1:c.647C>T
- NM_001400695.1:c.647C>T
- NM_001400696.1:c.647C>T
- NM_001400697.1:c.647C>T
- NM_001400698.1:c.647C>T
- NM_001400701.1:c.647C>T
- NM_001400702.1:c.647C>T
- NM_001400703.1:c.647C>T
- NM_001400704.1:c.647C>T
- NM_001400706.1:c.647C>T
- NM_001400708.1:c.647C>T
- NM_001400710.1:c.647C>T
- NM_001400712.1:c.647C>T
- NM_001400713.1:c.647C>T
- NM_001400715.1:c.647C>T
- NM_001400716.1:c.647C>T
- NM_001400717.1:c.647C>T
- NM_001400718.1:c.647C>T
- NM_001400719.1:c.647C>T
- NM_001400720.1:c.647C>T
- NM_001400721.1:c.647C>T
- NM_001400722.1:c.647C>T
- NM_001400723.1:c.647C>T
- NM_001400724.1:c.647C>T
- NM_001400725.1:c.647C>T
- NM_001400726.1:c.647C>T
- NM_001400727.1:c.647C>T
- NM_001400728.1:c.647C>T
- NM_001400729.1:c.647C>T
- NM_001400730.1:c.647C>T
- NM_001400731.1:c.647C>T
- NM_001400732.1:c.647C>T
- NM_001400733.1:c.647C>T
- NM_001400734.1:c.647C>T
- NM_001400735.1:c.647C>T
- NM_001400736.1:c.647C>T
- NM_001400737.1:c.647C>T
- NM_001400738.1:c.647C>T
- NM_001400739.1:c.647C>T
- NM_001400740.1:c.647C>T
- NM_001400741.1:c.647C>T
- NM_001400742.1:c.647C>T
- NM_001400743.1:c.647C>T
- NM_001400744.1:c.647C>T
- NM_001400745.1:c.647C>T
- NM_001400746.1:c.647C>T
- NM_001400747.1:c.647C>T
- NM_001400748.1:c.647C>T
- NM_001400753.1:c.647C>T
- NM_001400754.1:c.647C>T
- NM_001400755.1:c.647C>T
- NM_001400756.1:c.647C>T
- NM_001400757.1:c.647C>T
- NM_001400758.1:c.647C>T
- NM_001400759.1:c.647C>T
- NM_001400762.1:c.647C>T
- NM_001400763.1:c.647C>T
- NM_001400764.1:c.647C>T
- NM_001400765.1:c.647C>T
- NM_001400767.1:c.623C>T
- NM_001400768.1:c.383C>T
- NM_003097.6:c.647C>TMANE SELECT
- NM_005678.5:c.*835C>T
- NM_022805.5:c.647C>T
- NM_022806.5:c.647C>T
- NM_022807.5:c.647C>T
- NM_022808.5:c.647C>T
- NP_001336383.1:p.Pro216Leu
- NP_001336384.1:p.Pro216Leu
- NP_001336385.1:p.Pro216Leu
- NP_001336386.1:p.Pro216Leu
- NP_001336387.1:p.Pro216Leu
- NP_001336388.1:p.Pro216Leu
- NP_001336389.1:p.Pro216Leu
- NP_001336390.1:p.Pro216Leu
- NP_001336391.1:p.Pro216Leu
- NP_001336392.1:p.Pro216Leu
- NP_001336393.1:p.Pro216Leu
- NP_001336394.1:p.Pro216Leu
- NP_001365178.1:p.Pro216Leu
- NP_001365180.1:p.Pro220Leu
- NP_001365181.1:p.Pro220Leu
- NP_001365182.1:p.Pro220Leu
- NP_001365183.1:p.Pro220Leu
- NP_001365184.1:p.Pro220Leu
- NP_001365185.1:p.Pro208Leu
- NP_001365186.1:p.Pro208Leu
- NP_001387563.1:p.Pro216Leu
- NP_001387564.1:p.Pro216Leu
- NP_001387565.1:p.Pro216Leu
- NP_001387566.1:p.Pro216Leu
- NP_001387567.1:p.Pro216Leu
- NP_001387568.1:p.Pro216Leu
- NP_001387569.1:p.Pro216Leu
- NP_001387570.1:p.Pro216Leu
- NP_001387572.1:p.Pro216Leu
- NP_001387573.1:p.Pro216Leu
- NP_001387575.1:p.Pro216Leu
- NP_001387576.1:p.Pro216Leu
- NP_001387578.1:p.Pro216Leu
- NP_001387579.1:p.Pro216Leu
- NP_001387581.1:p.Pro216Leu
- NP_001387612.1:p.Pro216Leu
- NP_001387613.1:p.Pro216Leu
- NP_001387614.1:p.Pro216Leu
- NP_001387615.1:p.Pro216Leu
- NP_001387616.1:p.Pro216Leu
- NP_001387617.1:p.Pro216Leu
- NP_001387618.1:p.Pro216Leu
- NP_001387619.1:p.Pro216Leu
- NP_001387620.1:p.Pro216Leu
- NP_001387621.1:p.Pro216Leu
- NP_001387622.1:p.Pro216Leu
- NP_001387623.1:p.Pro216Leu
- NP_001387624.1:p.Pro216Leu
- NP_001387625.1:p.Pro216Leu
- NP_001387626.1:p.Pro216Leu
- NP_001387627.1:p.Pro216Leu
- NP_001387630.1:p.Pro216Leu
- NP_001387631.1:p.Pro216Leu
- NP_001387632.1:p.Pro216Leu
- NP_001387633.1:p.Pro216Leu
- NP_001387635.1:p.Pro216Leu
- NP_001387637.1:p.Pro216Leu
- NP_001387639.1:p.Pro216Leu
- NP_001387641.1:p.Pro216Leu
- NP_001387642.1:p.Pro216Leu
- NP_001387644.1:p.Pro216Leu
- NP_001387645.1:p.Pro216Leu
- NP_001387646.1:p.Pro216Leu
- NP_001387647.1:p.Pro216Leu
- NP_001387648.1:p.Pro216Leu
- NP_001387649.1:p.Pro216Leu
- NP_001387650.1:p.Pro216Leu
- NP_001387651.1:p.Pro216Leu
- NP_001387652.1:p.Pro216Leu
- NP_001387653.1:p.Pro216Leu
- NP_001387654.1:p.Pro216Leu
- NP_001387655.1:p.Pro216Leu
- NP_001387656.1:p.Pro216Leu
- NP_001387657.1:p.Pro216Leu
- NP_001387658.1:p.Pro216Leu
- NP_001387659.1:p.Pro216Leu
- NP_001387660.1:p.Pro216Leu
- NP_001387661.1:p.Pro216Leu
- NP_001387662.1:p.Pro216Leu
- NP_001387663.1:p.Pro216Leu
- NP_001387664.1:p.Pro216Leu
- NP_001387665.1:p.Pro216Leu
- NP_001387666.1:p.Pro216Leu
- NP_001387667.1:p.Pro216Leu
- NP_001387668.1:p.Pro216Leu
- NP_001387669.1:p.Pro216Leu
- NP_001387670.1:p.Pro216Leu
- NP_001387671.1:p.Pro216Leu
- NP_001387672.1:p.Pro216Leu
- NP_001387673.1:p.Pro216Leu
- NP_001387674.1:p.Pro216Leu
- NP_001387675.1:p.Pro216Leu
- NP_001387676.1:p.Pro216Leu
- NP_001387677.1:p.Pro216Leu
- NP_001387682.1:p.Pro216Leu
- NP_001387683.1:p.Pro216Leu
- NP_001387684.1:p.Pro216Leu
- NP_001387685.1:p.Pro216Leu
- NP_001387686.1:p.Pro216Leu
- NP_001387687.1:p.Pro216Leu
- NP_001387688.1:p.Pro216Leu
- NP_001387691.1:p.Pro216Leu
- NP_001387692.1:p.Pro216Leu
- NP_001387693.1:p.Pro216Leu
- NP_001387694.1:p.Pro216Leu
- NP_001387696.1:p.Pro208Leu
- NP_001387697.1:p.Pro128Leu
- NP_003088.1:p.Pro216Leu
- NP_073716.1:p.Pro216Leu
- NP_073717.1:p.Pro216Leu
- NP_073718.1:p.Pro216Leu
- NP_073718.1:p.Pro216Leu
- NP_073719.1:p.Pro216Leu
- NC_000015.9:g.25223427C>T
- NM_005678.4:c.*835C>T
- NM_022807.4:c.647C>T
- NR_146177.1:n.1549C>T
This HGVS expression did not pass validation- Protein change:
- P128L
- Molecular consequence:
- NM_005678.5:c.*835C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
- NM_001349454.2:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001349455.2:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001349456.2:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001349457.2:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001349458.2:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001349459.2:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001349460.2:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001349461.2:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001349462.2:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001349463.2:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001349464.2:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001349465.2:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001378249.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001378251.1:c.659C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001378252.1:c.659C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001378253.1:c.659C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001378254.1:c.659C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001378255.1:c.659C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001378256.1:c.623C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001378257.1:c.623C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400634.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400635.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400636.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400637.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400638.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400639.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400640.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400641.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400643.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400644.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400646.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400647.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400649.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400650.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400652.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400683.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400684.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400685.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400686.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400687.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400688.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400689.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400690.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400691.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400692.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400693.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400694.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400695.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400696.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400697.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400698.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400701.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400702.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400703.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400704.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400706.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400708.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400710.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400712.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400713.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400715.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400716.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400717.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400718.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400719.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400720.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400721.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400722.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400723.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400724.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400725.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400726.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400727.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400728.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400729.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400730.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400731.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400732.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400733.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400734.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400735.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400736.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400737.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400738.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400739.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400740.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400741.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400742.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400743.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400744.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400745.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400746.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400747.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400748.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400753.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400754.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400755.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400756.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400757.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400758.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400759.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400762.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400763.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400764.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400765.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400767.1:c.623C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400768.1:c.383C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_003097.6:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_022805.5:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_022806.5:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_022807.5:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_022808.5:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
- NR_146177.1:n.1549C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Condition(s)
- Synonyms:
- none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV005331810 | GeneDx | criteria provided, single submitter (GeneDx Variant Classification Process June 2021) | Uncertain significance (Jun 7, 2023) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | yes | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From GeneDx, SCV005331810.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Jan 19, 2025