NM_058216.3(RAD51C):c.467T>A (p.Val156Asp) AND Hereditary cancer-predisposing syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 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:: RCV001022887.1

Allele description

NM_058216.3(RAD51C):c.467T>A (p.Val156Asp)

Gene:

RAD51C:RAD51 paralog C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q22

Genomic location:

Preferred name:

NM_058216.3(RAD51C):c.467T>A (p.Val156Asp)

HGVS:

NC_000017.11:g.58696755T>A
NG_023199.1:g.9154T>A
NG_047169.1:g.325A>T
NM_058216.3:c.467T>AMANE SELECT
NP_478123.1:p.Val156Asp
LRG_314t1:c.467T>A
LRG_314:g.9154T>A
NC_000017.10:g.56774116T>A
NC_000017.10:g.56774116T>A
NM_058216.1:c.467T>A

Protein change:

V156D

Links:

dbSNP: rs1435180142

NCBI 1000 Genomes Browser:

rs1435180142

Molecular consequence:

NM_058216.3:c.467T>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001184675	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (3/2017))	Uncertain significance (Mar 28, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001184675

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))

Uncertain significance
(Mar 28, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV001184675.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

Description

The p.V156D variant (also known as c.467T>A), located in coding exon 3 of the RAD51C gene, results from a T to A substitution at nucleotide position 467. The valine at codon 156 is replaced by aspartic acid, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Aug 23, 2022

ClinVar

Relating variation to medicine