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NM_004360.5(CDH1):c.2547_2548insA (p.Ser850fs) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 18, 2016
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:
RCV000214510.5

Allele description [Variation Report for NM_004360.5(CDH1):c.2547_2548insA (p.Ser850fs)]

NM_004360.5(CDH1):c.2547_2548insA (p.Ser850fs)

Gene:
CDH1:cadherin 1 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
16q22.1
Genomic location:
Preferred name:
NM_004360.5(CDH1):c.2547_2548insA (p.Ser850fs)
HGVS:
  • NC_000016.10:g.68833397_68833398insA
  • NG_008021.1:g.101106_101107insA
  • NM_001317184.2:c.2364_2365insA
  • NM_001317185.2:c.999_1000insA
  • NM_001317186.2:c.582_583insA
  • NM_004360.5:c.2547_2548insAMANE SELECT
  • NP_001304113.1:p.Ser789fs
  • NP_001304114.1:p.Ser334fs
  • NP_001304115.1:p.Ser195fs
  • NP_004351.1:p.Ser850fs
  • LRG_301t1:c.2547_2548insA
  • LRG_301:g.101106_101107insA
  • NC_000016.9:g.68867300_68867301insA
  • NM_004360.3:c.2547_2548insA
  • NM_004360.5(CDH1):c.2547_2548insAMANE SELECT
  • p.Ser850fs
Protein change:
S195fs
Links:
dbSNP: rs876661286
NCBI 1000 Genomes Browser:
rs876661286
Molecular consequence:
  • NM_001317184.2:c.2364_2365insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001317185.2:c.999_1000insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001317186.2:c.582_583insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004360.5:c.2547_2548insA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000279990GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Mar 18, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000279990.4

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

Description

This insertion of one nucleotide in CDH1 is denoted c.2547_2548insA at the cDNA level and p.Ser850IlefsX11 (S850IfsX11) at the protein level. The normal sequence, with the base that is inserted in braces, is GAAC[A]TCCT. The insertion causes a frameshift which changes a Serine to an Isoleucine at codon 850, and creates a premature stop codon at position 11 of the new reading frame. As this deletion is in the last exon of the gene, nonsense mediated decay is not expected to occur. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to lead to protein truncation, the consequences of which are unclear. Based on currently available information, it is unclear whether this insertion is a pathogenic variant or a benign variant. We consider it to be a variant of uncertain significance.

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

Last Updated: Nov 10, 2024