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NM_004360.5(CDH1):c.79C>T (p.Pro27Ser) AND CDH1-related diffuse gastric and lobular breast cancer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 21, 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:
RCV003328310.2

Allele description [Variation Report for NM_004360.5(CDH1):c.79C>T (p.Pro27Ser)]

NM_004360.5(CDH1):c.79C>T (p.Pro27Ser)

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.79C>T (p.Pro27Ser)
Other names:
NM_004360.4(CDH1):c.79C>T
HGVS:
  • NC_000016.10:g.68738327C>T
  • NG_008021.1:g.6036C>T
  • NM_001317184.2:c.79C>T
  • NM_001317185.2:c.-1537C>T
  • NM_001317186.2:c.-1741C>T
  • NM_004360.5:c.79C>TMANE SELECT
  • NP_001304113.1:p.Pro27Ser
  • NP_004351.1:p.Pro27Ser
  • LRG_301t1:c.79C>T
  • LRG_301:g.6036C>T
  • NC_000016.9:g.68772230C>T
  • NM_004360.3:c.79C>T
  • NM_004360.4:c.79C>T
Protein change:
P27S
Links:
dbSNP: rs878854696
NCBI 1000 Genomes Browser:
rs878854696
Molecular consequence:
  • NM_001317185.2:c.-1537C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317186.2:c.-1741C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317184.2:c.79C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004360.5:c.79C>T - missense variant - [Sequence Ontology: SO:0001583]

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000864597ClinGen CDH1 Variant Curation Expert Panel
reviewed by expert panel

(ClinGen CDH1 ACMG Specifications V3.1)		Uncertain significance
(Aug 21, 2023) 		germlinecuration

Citation Link

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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, SCV000864597.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The c.79C>T (p.Pro27Ser) variant has allele frequency <1 out of 100, 000 in the gnomAD cohort (1/156646 in gnomAD v2.1.1; PM2_Supporting). No additional evidence met criteria for consideration. In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the CDH1 Variant Curation Expert Panel (Variant Interpretation Guidelines Version 3.1): PM2_Supporting.

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

Last Updated: Sep 29, 2024