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NM_004360.5(CDH1):c.831A>C (p.Pro277=) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 23, 2014
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:
RCV000492314.3

Allele description [Variation Report for NM_004360.5(CDH1):c.831A>C (p.Pro277=)]

NM_004360.5(CDH1):c.831A>C (p.Pro277=)

Gene:
CDH1:cadherin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q22.1
Genomic location:
Preferred name:
NM_004360.5(CDH1):c.831A>C (p.Pro277=)
HGVS:
  • NC_000016.10:g.68810340A>C
  • NG_008021.1:g.78049A>C
  • NM_001317184.2:c.831A>C
  • NM_001317185.2:c.-785A>C
  • NM_001317186.2:c.-989A>C
  • NM_004360.5:c.831A>CMANE SELECT
  • NP_001304113.1:p.Pro277=
  • NP_004351.1:p.Pro277=
  • LRG_301t1:c.831A>C
  • LRG_301:g.78049A>C
  • NC_000016.9:g.68844243A>C
  • NM_004360.3:c.831A>C
Links:
dbSNP: rs1131690816
NCBI 1000 Genomes Browser:
rs1131690816
Molecular consequence:
  • NM_001317185.2:c.-785A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317186.2:c.-989A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317184.2:c.831A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004360.5:c.831A>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
SCV000580705Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 23, 2014) 		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, SCV000580705.6

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

Description

The c.831A>C variant (also known as p.P277P) located in coding exon 6, results from an A to C substitution at nucleotide position 831 of the CDH1 gene. This nucleotide substitution does not change the amino acid at codon 277 but is in the second to last nucleotide position of coding exon 6, adjacent to the splice donor site. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native donor splice site; however, direct evidence is unavailable. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. To date, this alteration has been detected with an allele frequency of approximately 0.003% (greater than 30000 alleles tested) in our clinical cohort (includes this individual). Since supporting evidence is limited at this time, the clinical significance of c.831A>C remains unclear.

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

Last Updated: Aug 25, 2024