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NM_000264.5(PTCH1):c.3385G>C (p.Gly1129Arg) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 26, 2019
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:
RCV001020155.3

Allele description [Variation Report for NM_000264.5(PTCH1):c.3385G>C (p.Gly1129Arg)]

NM_000264.5(PTCH1):c.3385G>C (p.Gly1129Arg)

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.3385G>C (p.Gly1129Arg)
HGVS:
  • NC_000009.12:g.95453542C>G
  • NG_007664.1:g.68424G>C
  • NM_000264.5:c.3385G>CMANE SELECT
  • NM_001083602.3:c.3187G>C
  • NM_001083603.3:c.3382G>C
  • NM_001083604.3:c.2932G>C
  • NM_001083605.3:c.2932G>C
  • NM_001083606.3:c.2932G>C
  • NM_001083607.3:c.2932G>C
  • NM_001354918.2:c.3229G>C
  • NP_000255.2:p.Gly1129Arg
  • NP_001077071.1:p.Gly1063Arg
  • NP_001077072.1:p.Gly1128Arg
  • NP_001077073.1:p.Gly978Arg
  • NP_001077074.1:p.Gly978Arg
  • NP_001077075.1:p.Gly978Arg
  • NP_001077076.1:p.Gly978Arg
  • NP_001341847.1:p.Gly1077Arg
  • LRG_515t1:c.3385G>C
  • LRG_515:g.68424G>C
  • NC_000009.11:g.98215824C>G
  • NM_000264.3:c.3385G>C
  • NR_149061.2:n.4124G>C
Protein change:
G1063R
Links:
dbSNP: rs1588528637
NCBI 1000 Genomes Browser:
rs1588528637
Molecular consequence:
  • NM_000264.5:c.3385G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001083602.3:c.3187G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001083603.3:c.3382G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001083604.3:c.2932G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001083605.3:c.2932G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001083606.3:c.2932G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001083607.3:c.2932G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354918.2:c.3229G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_149061.2:n.4124G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001181597Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely pathogenic
(Feb 26, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV001181597.4

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

Description

The p.G1129R variant (also known as c.3385G>C), located in coding exon 20 of the PTCH1 gene, results from a G to C substitution at nucleotide position 3385. The glycine at codon 1129 is replaced by arginine, an amino acid with dissimilar properties. Based on structural analysis, this variant is anticipated to result in a decrease in structural stability on a functionally important region (Ambry internal data). In addition, this alteration was observed in an individual with a clinical diagnosis of Gorlin syndrome (Ambry internal data). This amino acid position is highly conserved in available vertebrate species. This alteration is also predicted to be probably damaging and deleterious by PolyPhen and SIFT in silico analyses, respectively. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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

Last Updated: Sep 29, 2024