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NM_004360.5(CDH1):c.408A>G (p.Gln136=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 28, 2019
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:
RCV000780097.2

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)

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
SCV000917138Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely benign
(Aug 28, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000917138.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024