NM_000264.4(PTCH1):c.2391C>A (p.Tyr797Ter) AND Gorlin syndrome

Clinical significance:Pathogenic (Last evaluated: Dec 19, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000230356.1

Allele description [Variation Report for NM_000264.4(PTCH1):c.2391C>A (p.Tyr797Ter)]

NM_000264.4(PTCH1):c.2391C>A (p.Tyr797Ter)

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_000264.4(PTCH1):c.2391C>A (p.Tyr797Ter)
HGVS:
  • NC_000009.12:g.95467285G>T
  • NG_007664.1:g.54681C>A
  • NM_000264.4:c.2391C>A
  • NM_001083602.2:c.2193C>A
  • NP_000255.2:p.Tyr797Ter
  • NP_001077071.1:p.Tyr731Ter
  • LRG_515t1:c.2391C>A
  • LRG_515t2:c.2193C>A
  • LRG_515:g.54681C>A
  • LRG_515p1:p.Tyr797Ter
  • LRG_515p2:p.Tyr731Ter
  • NC_000009.11:g.98229567G>T
  • NM_000264.3:c.2391C>A
Protein change:
Y731*
Links:
dbSNP: rs778260156
NCBI 1000 Genomes Browser:
rs778260156
Molecular consequence:
  • NM_000264.4:c.2391C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Gorlin syndrome (BCNS)
Synonyms:
Basal cell nevus syndrome
Identifiers:
MedGen: C0004779; Orphanet: 377; OMIM: 109400

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000284330Invitaecriteria provided, single submitter
Pathogenic
(Dec 19, 2015)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000284330.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change creates a premature translational stop signal at codon 797 (p.Tyr797*). It is expected to result in an absent or disrupted protein product. Truncating variants in PTCH1 are known to be pathogenic. This particular truncation has been reported in the literature in an individual and his father with nevoid basal cell carcinoma syndrome also known as Gorlin syndrome (PMID: 17349603). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Jul 21, 2018