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NM_001122955.4(BSCL2):c.1071A>G (p.Pro357=) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 17, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002447070.2

Allele description [Variation Report for NM_001122955.4(BSCL2):c.1071A>G (p.Pro357=)]

NM_001122955.4(BSCL2):c.1071A>G (p.Pro357=)

Genes:
BSCL2:BSCL2 lipid droplet biogenesis associated, seipin [Gene - OMIM - HGNC]
HNRNPUL2-BSCL2:HNRNPUL2-BSCL2 readthrough (NMD candidate) [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q12.3
Genomic location:
Preferred name:
NM_001122955.4(BSCL2):c.1071A>G (p.Pro357=)
HGVS:
  • NC_000011.10:g.62691076T>C
  • NG_008461.1:g.23499A>G
  • NG_033077.1:g.3824A>G
  • NM_001122955.4:c.1071A>GMANE SELECT
  • NM_001130702.2:c.737A>G
  • NM_001386027.1:c.1071A>G
  • NM_001386028.1:c.1071A>G
  • NM_032667.6:c.879A>G
  • NP_001116427.1:p.Pro357=
  • NP_001124174.2:p.Gln246Arg
  • NP_001372956.1:p.Pro357=
  • NP_001372957.1:p.Pro357=
  • NP_116056.3:p.Pro293=
  • LRG_235t2:c.879A>G
  • LRG_235:g.23499A>G
  • LRG_235p2:p.Pro293=
  • NC_000011.9:g.62458548T>C
  • NR_037946.1:n.3591A>G
Protein change:
Q246R
Links:
dbSNP: rs113336810
NCBI 1000 Genomes Browser:
rs113336810
Molecular consequence:
  • NM_001130702.2:c.737A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_037946.1:n.3591A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001122955.4:c.1071A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001386027.1:c.1071A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001386028.1:c.1071A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_032667.6:c.879A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002682620Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 17, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002682620.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.879A>G variant (also known as p.P293P) is located in coding exon 7 of the BSCL2 gene. This variant results from an A to G substitution at nucleotide position 879. This nucleotide substitution does not change the proline at codon 293. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice donor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024