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NM_000264.5(PTCH1):c.2151C>G (p.Asp717Glu) AND PTCH1-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 29, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004548983.2

Allele description [Variation Report for NM_000264.5(PTCH1):c.2151C>G (p.Asp717Glu)]

NM_000264.5(PTCH1):c.2151C>G (p.Asp717Glu)

Genes:
PTCH1:patched 1 [Gene - OMIM - HGNC]
LOC100507346:uncharacterized LOC100507346 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
9q22.32
Genomic location:
Preferred name:
NM_000264.5(PTCH1):c.2151C>G (p.Asp717Glu)
HGVS:
  • NC_000009.12:g.95468850G>C
  • NG_007664.1:g.53116C>G
  • NM_000264.5:c.2151C>GMANE SELECT
  • NM_001083602.3:c.1953C>G
  • NM_001083603.3:c.2148C>G
  • NM_001083604.3:c.1698C>G
  • NM_001083605.3:c.1698C>G
  • NM_001083606.3:c.1698C>G
  • NM_001083607.3:c.1698C>G
  • NM_001354918.2:c.1995C>G
  • NP_000255.2:p.Asp717Glu
  • NP_000255.2:p.Asp717Glu
  • NP_001077071.1:p.Asp651Glu
  • NP_001077071.1:p.Asp651Glu
  • NP_001077072.1:p.Asp716Glu
  • NP_001077073.1:p.Asp566Glu
  • NP_001077074.1:p.Asp566Glu
  • NP_001077075.1:p.Asp566Glu
  • NP_001077076.1:p.Asp566Glu
  • NP_001341847.1:p.Asp665Glu
  • LRG_515t1:c.2151C>G
  • LRG_515t2:c.1953C>G
  • LRG_515:g.53116C>G
  • LRG_515p1:p.Asp717Glu
  • LRG_515p2:p.Asp651Glu
  • NC_000009.11:g.98231132G>C
  • NM_000264.3:c.2151C>G
  • NM_001083602.1:c.1953C>G
  • NR_038982.1:n.788G>C
  • NR_149061.2:n.3056C>G
Protein change:
D566E
Molecular consequence:
  • NM_000264.5:c.2151C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001083602.3:c.1953C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001083603.3:c.2148C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001083604.3:c.1698C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001083605.3:c.1698C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001083606.3:c.1698C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001083607.3:c.1698C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354918.2:c.1995C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_038982.1:n.788G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_149061.2:n.3056C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
PTCH1-related disorder
Synonyms:
PTCH1-related disorders; PTCH1-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004800323PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Feb 29, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004800323.2

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

Description

The PTCH1 c.2151C>G variant is predicted to result in the amino acid substitution p.Asp717Glu. To our knowledge, this variant has not been reported in the literature or in a large population database indicating this variant is rare. This variant is not present in ClinVar. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Nov 24, 2024