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NM_000264.5(PTCH1):c.590G>A (p.Trp197Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 23, 2015
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:
RCV000478704.1

Allele description [Variation Report for NM_000264.5(PTCH1):c.590G>A (p.Trp197Ter)]

NM_000264.5(PTCH1):c.590G>A (p.Trp197Ter)

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.590G>A (p.Trp197Ter)
HGVS:
  • NC_000009.12:g.95482198C>T
  • NG_007664.1:g.39768G>A
  • NM_000264.5:c.590G>AMANE SELECT
  • NM_001083602.3:c.392G>A
  • NM_001083603.3:c.587G>A
  • NM_001083604.3:c.137G>A
  • NM_001083605.3:c.137G>A
  • NM_001083606.3:c.137G>A
  • NM_001083607.3:c.137G>A
  • NM_001354918.2:c.590G>A
  • NM_001354919.2:c.392G>A
  • NP_000255.2:p.Trp197Ter
  • NP_001077071.1:p.Trp131Ter
  • NP_001077072.1:p.Trp196Ter
  • NP_001077073.1:p.Trp46Ter
  • NP_001077074.1:p.Trp46Ter
  • NP_001077075.1:p.Trp46Ter
  • NP_001077076.1:p.Trp46Ter
  • NP_001341847.1:p.Trp197Ter
  • NP_001341848.1:p.Trp131Ter
  • LRG_515t1:c.590G>A
  • LRG_515:g.39768G>A
  • NC_000009.11:g.98244480C>T
  • NM_000264.3:c.590G>A
  • NR_149061.2:n.1495G>A
Protein change:
W131*
Links:
dbSNP: rs1064793922
NCBI 1000 Genomes Browser:
rs1064793922
Molecular consequence:
  • NR_149061.2:n.1495G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000264.5:c.590G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001083602.3:c.392G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001083603.3:c.587G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001083604.3:c.137G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001083605.3:c.137G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001083606.3:c.137G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001083607.3:c.137G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354918.2:c.590G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354919.2:c.392G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000567353GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Jul 23, 2015) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000567353.3

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

Description

The W197X nonsense variant in the PTCH1 gene has been reported previously in association withGorlin syndrome (Musani et al., 2012).This pathogenic variant is predicted to cause loss of normal protein function either through proteintruncation or nonsense-mediated mRNA decay.

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

Last Updated: Sep 29, 2024