U.S. flag

An official website of the United States government

NM_004360.5(CDH1):c.408A>G (p.Gln136=) AND CDH1-related diffuse gastric and lobular breast cancer syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 25, 2023
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV003993965.1

Allele description [Variation Report for NM_004360.5(CDH1):c.408A>G (p.Gln136=)]

NM_004360.5(CDH1):c.408A>G (p.Gln136=)

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.408A>G (p.Gln136=)
Other names:
NM_004360.5(CDH1):c.408A>G; p.Gln136=
HGVS:
  • NC_000016.10:g.68808444A>G
  • NG_008021.1:g.76153A>G
  • NM_001317184.2:c.408A>G
  • NM_001317185.2:c.-1208A>G
  • NM_001317186.2:c.-1412A>G
  • NM_004360.5:c.408A>GMANE SELECT
  • NP_001304113.1:p.Gln136=
  • NP_004351.1:p.Gln136=
  • LRG_301t1:c.408A>G
  • LRG_301:g.76153A>G
  • NC_000016.9:g.68842347A>G
  • NM_004360.3:c.408A>G
  • NM_004360.4:c.408A>G
Links:
dbSNP: rs1060501229
NCBI 1000 Genomes Browser:
rs1060501229
Molecular consequence:
  • NM_001317185.2:c.-1208A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317186.2:c.-1412A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317184.2:c.408A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004360.5:c.408A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
CDH1-related diffuse gastric and lobular breast cancer syndrome
Synonyms:
CDH1-related diffuse gastric and lobular breast cancer
Identifiers:
MONDO: MONDO:0100488; MedGen: CN311521

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004812908ClinGen CDH1 Variant Curation Expert Panel
reviewed by expert panel

(ClinGen CDH1 ACMG Specifications V3.1)		Likely Benign
(Sep 25, 2023) 		germlinecuration

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From ClinGen CDH1 Variant Curation Expert Panel, SCV004812908.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The c.408A>G (p.Gln136=) variant results in a synonymous change in exon 4 of CDH1. This is a silent variant that occurs at a position that is not highly conserved and for which splicing predictors do not suggest an impact on splicing (BP4, BP7). This variant is absent from the gnomAD population database v3.1.2. This variant was identified in 29 individuals without DGC, LBC, SRC tumours and whose families do not suggest HDGC (BS2; PMID: 30287823, 36436516, and internal laboratory contributors). In summary, this variant is classified as likely benign based on ACMG/AMP criteria applied as likely benign specified by the CDH1 Variant Curation Expert Panel: BS2, BP4, BP7.

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

Last Updated: Sep 29, 2024