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NM_000264.5(PTCH1):c.746+1G>C AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 20, 2016
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:
RCV000492603.3

Allele description [Variation Report for NM_000264.5(PTCH1):c.746+1G>C]

NM_000264.5(PTCH1):c.746+1G>C

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.746+1G>C
HGVS:
  • NC_000009.12:g.95481948C>G
  • NG_007664.1:g.40018G>C
  • NM_000264.5:c.746+1G>CMANE SELECT
  • NM_001083602.3:c.548+1G>C
  • NM_001083603.3:c.743+1G>C
  • NM_001083604.3:c.293+1G>C
  • NM_001083605.3:c.293+1G>C
  • NM_001083606.3:c.293+1G>C
  • NM_001083607.3:c.293+1G>C
  • NM_001354918.2:c.746+1G>C
  • NM_001354919.2:c.549G>C
  • NP_001341848.1:p.Leu183=
  • LRG_515t1:c.746+1G>C
  • LRG_515:g.40018G>C
  • NC_000009.11:g.98244230C>G
  • NM_000264.3:c.746+1G>C
Links:
dbSNP: rs1131690994
NCBI 1000 Genomes Browser:
rs1131690994
Molecular consequence:
  • NM_000264.5:c.746+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001083602.3:c.548+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001083603.3:c.743+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001083604.3:c.293+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001083605.3:c.293+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001083606.3:c.293+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001083607.3:c.293+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354918.2:c.746+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354919.2:c.549G>C - 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
SCV000581061Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Apr 20, 2016) 		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, SCV000581061.6

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

Description

The c.746+1G>C intronic pathogenic mutation results from a G to C substitution one nucleotide after coding exon 5 of the PTCH1 gene. Since alterations that disrupt the canonical splice donor site are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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

Last Updated: May 1, 2024