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NM_004360.5(CDH1):c.-40G>A AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 9, 2017
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:
RCV000441733.2

Allele description [Variation Report for NM_004360.5(CDH1):c.-40G>A]

NM_004360.5(CDH1):c.-40G>A

Genes:
LOC130059290:ATAC-STARR-seq lymphoblastoid silent region 7650 [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.-40G>A
HGVS:
  • NC_000016.10:g.68737376G>A
  • NG_008021.1:g.5085G>A
  • NM_001317184.2:c.-40G>A
  • NM_001317185.2:c.-1655G>A
  • NM_001317186.2:c.-1859G>A
  • NM_004360.5:c.-40G>AMANE SELECT
  • LRG_301t1:c.-40G>A
  • LRG_301:g.5085G>A
  • NC_000016.9:g.68771279G>A
  • NM_004360.3:c.-40G>A
Links:
dbSNP: rs1057520910
NCBI 1000 Genomes Browser:
rs1057520910
Molecular consequence:
  • NM_001317184.2:c.-40G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317185.2:c.-1655G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317186.2:c.-1859G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_004360.5:c.-40G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000519568GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Aug 9, 2017) 		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, SCV000519568.4

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Oct 14, 2023