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NM_004360.5(CDH1):c.409_410delinsAG (p.Ala137Arg) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 25, 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:
RCV003344135.2

Allele description [Variation Report for NM_004360.5(CDH1):c.409_410delinsAG (p.Ala137Arg)]

NM_004360.5(CDH1):c.409_410delinsAG (p.Ala137Arg)

Gene:
CDH1:cadherin 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
16q22.1
Genomic location:
Preferred name:
NM_004360.5(CDH1):c.409_410delinsAG (p.Ala137Arg)
HGVS:
  • NC_000016.10:g.68808445_68808446delinsAG
  • NG_008021.1:g.76154_76155delinsAG
  • NM_001317184.2:c.409_410delinsAG
  • NM_001317185.2:c.-1207_-1206delinsAG
  • NM_001317186.2:c.-1411_-1410delinsAG
  • NM_004360.5:c.409_410delinsAGMANE SELECT
  • NP_001304113.1:p.Ala137Arg
  • NP_004351.1:p.Ala137Arg
  • NP_004351.1:p.Ala137Arg
  • LRG_301t1:c.409_410delGCinsAG
  • LRG_301:g.76154_76155delinsAG
  • LRG_301p1:p.Ala137Arg
  • NC_000016.9:g.68842348_68842349delinsAG
  • NM_004360.3:c.409_410delGCinsAG
Protein change:
A137R
Molecular consequence:
  • NM_001317185.2:c.-1207_-1206delinsAG - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317186.2:c.-1411_-1410delinsAG - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317184.2:c.409_410delinsAG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004360.5:c.409_410delinsAG - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004057700Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 25, 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, SCV004057700.2

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

Description

The c.409_410delGCinsAG variant, located in coding exon 4 of the CDH1 gene, results from an in-frame deletion of GC and insertion of AG at nucleotide positions 409 to 410. This results in the substitution of the alanine residue for an arginine residue at codon 137, an amino acid with dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024