NM_000264.3(PTCH1):c.3003T>A (p.Tyr1001Ter) AND Gorlin syndrome

Clinical significance:Pathogenic (Last evaluated: May 11, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000461102.1

Allele description

NM_000264.3(PTCH1):c.3003T>A (p.Tyr1001Ter)

Gene:
PTCH1:patched 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q22.32
Genomic location:
Preferred name:
NM_000264.3(PTCH1):c.3003T>A (p.Tyr1001Ter)
HGVS:
  • NC_000009.12:g.95458178A>T
  • NG_007664.1:g.63788T>A
  • NM_000264.3:c.3003T>A
  • NM_001083602.1:c.2805T>A
  • NP_000255.2:p.Tyr1001Ter
  • NP_001077071.1:p.Tyr935Ter
  • LRG_515t1:c.3003T>A
  • LRG_515t2:c.2805T>A
  • LRG_515:g.63788T>A
  • LRG_515p1:p.Tyr1001Ter
  • LRG_515p2:p.Tyr935Ter
  • NC_000009.11:g.98220460A>T
Protein change:
Y1001*
Molecular consequence:
  • NM_000264.3:c.3003T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Gorlin syndrome (BCNS)
Synonyms:
Basal cell nevus syndrome
Identifiers:
MedGen: C0004779; Orphanet: 377; OMIM: 109400
Age of onset:
Adolescent
Prevalence:
1-9 / 100 000 377

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000549115Invitaecriteria provided, single submitter
Pathogenic
(May 11, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Invitae, SCV000549115.1

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

Description

This sequence change creates a premature translational stop signal at codon 1001 (p.Tyr1001*) of the PTCH1 gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in PTCH1 are known to be pathogenic (PMID: 16301862, 16419085). 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: Apr 17, 2017

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