U.S. flag

An official website of the United States government

NM_004360.5(CDH1):c.-84G>A AND not specified

Germline classification:
Likely benign (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000581890.7

Allele description [Variation Report for NM_004360.5(CDH1):c.-84G>A]

NM_004360.5(CDH1):c.-84G>A

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.-84G>A
HGVS:
  • NC_000016.10:g.68737332G>A
  • NG_008021.1:g.5041G>A
  • NM_001317184.2:c.-84G>A
  • NM_001317185.2:c.-1699G>A
  • NM_001317186.2:c.-1903G>A
  • NM_004360.5:c.-84G>AMANE SELECT
  • LRG_301:g.5041G>A
  • NC_000016.9:g.68771235G>A
  • NM_004360.4:c.-84G>A
Links:
dbSNP: rs374268061
NCBI 1000 Genomes Browser:
rs374268061
Molecular consequence:
  • NM_001317184.2:c.-84G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317185.2:c.-1699G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317186.2:c.-1903G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_004360.5:c.-84G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000691806Mayo Clinic Laboratories, Mayo Clinic
no assertion criteria provided
Likely benignunknownclinical testing

Summary from all submissions

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

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000691806.1

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

Last Updated: Jun 17, 2024