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NM_000264.5(PTCH1):c.3393G>T (p.Val1131=) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 31, 2023
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:
RCV004024923.1

Allele description [Variation Report for NM_000264.5(PTCH1):c.3393G>T (p.Val1131=)]

NM_000264.5(PTCH1):c.3393G>T (p.Val1131=)

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.3393G>T (p.Val1131=)
HGVS:
  • NC_000009.12:g.95453534C>A
  • NG_007664.1:g.68432G>T
  • NM_000264.5:c.3393G>TMANE SELECT
  • NM_001083602.3:c.3195G>T
  • NM_001083603.3:c.3390G>T
  • NM_001083604.3:c.2940G>T
  • NM_001083605.3:c.2940G>T
  • NM_001083606.3:c.2940G>T
  • NM_001083607.3:c.2940G>T
  • NM_001354918.2:c.3237G>T
  • NP_000255.2:p.Val1131=
  • NP_001077071.1:p.Val1065=
  • NP_001077072.1:p.Val1130=
  • NP_001077073.1:p.Val980=
  • NP_001077074.1:p.Val980=
  • NP_001077075.1:p.Val980=
  • NP_001077076.1:p.Val980=
  • NP_001341847.1:p.Val1079=
  • LRG_515t1:c.3393G>T
  • LRG_515:g.68432G>T
  • NC_000009.11:g.98215816C>A
  • NM_000264.3:c.3393G>T
  • NR_149061.2:n.4132G>T
Links:
dbSNP: rs1267662604
NCBI 1000 Genomes Browser:
rs1267662604
Molecular consequence:
  • NR_149061.2:n.4132G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000264.5:c.3393G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001083602.3:c.3195G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001083603.3:c.3390G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001083604.3:c.2940G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001083605.3:c.2940G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001083606.3:c.2940G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001083607.3:c.2940G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354918.2:c.3237G>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV005033838Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Dec 31, 2023) 		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, SCV005033838.1

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 7, 2024