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NM_004360.5(CDH1):c.2531_2533delinsTTT (p.Ser844Ile) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 25, 2022
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:
RCV002425062.2

Allele description [Variation Report for NM_004360.5(CDH1):c.2531_2533delinsTTT (p.Ser844Ile)]

NM_004360.5(CDH1):c.2531_2533delinsTTT (p.Ser844Ile)

Gene:
CDH1:cadherin 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
16q22.1
Genomic location:
Preferred name:
NM_004360.5(CDH1):c.2531_2533delinsTTT (p.Ser844Ile)
HGVS:
  • NC_000016.10:g.68833381_68833383delinsTTT
  • NG_008021.1:g.101090_101092delinsTTT
  • NM_001317184.2:c.2348_2350delinsTTT
  • NM_001317185.2:c.983_985delinsTTT
  • NM_001317186.2:c.566_568delinsTTT
  • NM_004360.5:c.2531_2533delinsTTTMANE SELECT
  • NP_001304113.1:p.Ser783Ile
  • NP_001304114.1:p.Ser328Ile
  • NP_001304115.1:p.Ser189Ile
  • NP_004351.1:p.Ser844Ile
  • LRG_301t1:c.2531_2533delinsTTT
  • LRG_301:g.101090_101092delinsTTT
  • NC_000016.9:g.68867284_68867286delinsTTT
  • NM_004360.3:c.2531_2533delGTCinsTTT
  • NM_004360.3:c.2531_2533delinsTTT
Protein change:
S189I
Links:
dbSNP: rs2152144007
NCBI 1000 Genomes Browser:
rs2152144007
Molecular consequence:
  • NM_001317184.2:c.2348_2350delinsTTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317185.2:c.983_985delinsTTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317186.2:c.566_568delinsTTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004360.5:c.2531_2533delinsTTT - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002742412Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 25, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002742412.2

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

Description

The c.2531_2533delGTCinsTTT variant (also known as p.S844I), located in coding exon 16 of the CDH1 gene, results from an in-frame deletion of GTC and insertion of TTT at nucleotide positions 2531 to 2533. This results in the substitution of the serine residue for an isoleucine residue at codon 844, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. 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: May 1, 2024