NM_058216.3(RAD51C):c.4C>G (p.Arg2Gly) AND Breast-ovarian cancer, familial, susceptibility to, 3

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 5, 2023
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:: RCV003316791.1

Allele description [Variation Report for NM_058216.3(RAD51C):c.4C>G (p.Arg2Gly)]

NM_058216.3(RAD51C):c.4C>G (p.Arg2Gly)

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.4C>G (p.Arg2Gly)

HGVS:

NC_000017.11:g.58692647C>G
NG_023199.1:g.5046C>G
NG_047169.1:g.4433G>C
NM_002876.4:c.4C>G
NM_058216.3:c.4C>GMANE SELECT
NP_002867.1:p.Arg2Gly
NP_478123.1:p.Arg2Gly
LRG_314t1:c.4C>G
LRG_314:g.5046C>G
NC_000017.10:g.56770008C>G
NM_058216.1:c.4C>G
NM_058216.2:c.4C>G
NR_103872.2:n.46C>G
NR_103873.1:n.75C>G

Protein change:

R2G

Links:

dbSNP: rs758029117

NCBI 1000 Genomes Browser:

rs758029117

Molecular consequence:

NM_002876.4:c.4C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_058216.3:c.4C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_103872.2:n.46C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_103873.1:n.75C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 3
Synonyms:: RAD51C-Related Breast/Ovarian Cancer; Breast-ovarian cancer, familial 3
Identifiers:: MONDO: MONDO:0013253; MedGen: C3150659; Orphanet: 145; OMIM: 613399

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004019975	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Uncertain significance (Apr 5, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004019975

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Uncertain significance
(Apr 5, 2023)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV004019975.1

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

Description

This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.

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

Last Updated: May 1, 2024

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