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NM_004360.5(CDH1):c.2571G>A (p.Gln857=) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 21, 2014
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:
RCV000164497.1

Allele description [Variation Report for NM_004360.5(CDH1):c.2571G>A (p.Gln857=)]

NM_004360.5(CDH1):c.2571G>A (p.Gln857=)

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.2571G>A (p.Gln857=)
HGVS:
  • NC_000016.10:g.68833421G>A
  • NG_008021.1:g.101130G>A
  • NM_001317184.2:c.2388G>A
  • NM_001317185.2:c.1023G>A
  • NM_001317186.2:c.606G>A
  • NM_004360.5:c.2571G>AMANE SELECT
  • NP_001304113.1:p.Gln796=
  • NP_001304114.1:p.Gln341=
  • NP_001304115.1:p.Gln202=
  • NP_004351.1:p.Gln857=
  • LRG_301t1:c.2571G>A
  • LRG_301:g.101130G>A
  • NC_000016.9:g.68867324G>A
  • NM_004360.3:c.2571G>A
  • p.Q857Q
Links:
dbSNP: rs786201949
NCBI 1000 Genomes Browser:
rs786201949
Molecular consequence:
  • NM_001317184.2:c.2388G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001317185.2:c.1023G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001317186.2:c.606G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004360.5:c.2571G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

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
SCV000215146Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Likely benign
(May 21, 2014) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000215146.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023