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NM_000264.5(PTCH1):c.395-1G>A AND PTCH1-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 29, 2023
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:
RCV004551300.2

Allele description [Variation Report for NM_000264.5(PTCH1):c.395-1G>A]

NM_000264.5(PTCH1):c.395-1G>A

Gene:
PTCH1:patched 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q22.32
Genomic location:
Preferred name:
NM_000264.5(PTCH1):c.395-1G>A
HGVS:
  • NC_000009.12:g.95485875C>T
  • NG_007664.1:g.36091G>A
  • NM_000264.5:c.395-1G>AMANE SELECT
  • NM_001083602.3:c.197-1G>A
  • NM_001083603.3:c.392-1G>A
  • NM_001083604.3:c.-59-1G>A
  • NM_001083605.3:c.-59-1G>A
  • NM_001083606.3:c.-59-1G>A
  • NM_001083607.3:c.-59-1G>A
  • NM_001354918.2:c.395-1G>A
  • NM_001354919.2:c.197-1G>A
  • LRG_515t1:c.395-1G>A
  • LRG_515:g.36091G>A
  • NC_000009.11:g.98248157C>T
  • NM_000264.3:c.395-1G>A
  • NM_000264.4:c.395-1G>A
Links:
dbSNP: rs368869806
NCBI 1000 Genomes Browser:
rs368869806
Molecular consequence:
  • NM_000264.5:c.395-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001083602.3:c.197-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001083603.3:c.392-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001083604.3:c.-59-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001083605.3:c.-59-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001083606.3:c.-59-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001083607.3:c.-59-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354918.2:c.395-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354919.2:c.197-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV004771386PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Nov 29, 2023) 		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, SCV004771386.2

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

Description

The PTCH1 c.395-1G>A variant is predicted to disrupt the AG splice acceptor site and interfere with normal splicing. This variant was reported in an individual with recurring esthesioneuroblastoma (case 8, Gay et al. 2017. PubMed ID: 28495808). This variant is reported in 0.00088% of alleles in individuals of European (non-Finnish) descent in gnomAD and has conflicting interpretations regarding its pathogenicity in ClinVar, ranging from likely benign to pathogenic (https://www.ncbi.nlm.nih.gov/clinvar/variation/162510/). Although we suspect that this variant may be pathogenic, 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: Jan 19, 2025