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NM_058216.3(RAD51C):c.397C>A (p.Gln133Lys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 2, 2018
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:
RCV000236579.1

Allele description [Variation Report for NM_058216.3(RAD51C):c.397C>A (p.Gln133Lys)]

NM_058216.3(RAD51C):c.397C>A (p.Gln133Lys)

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.397C>A (p.Gln133Lys)
HGVS:
  • NC_000017.11:g.58695182C>A
  • NG_023199.1:g.7581C>A
  • NG_047169.1:g.1898G>T
  • NM_002876.4:c.397C>A
  • NM_058216.3:c.397C>AMANE SELECT
  • NP_002867.1:p.Gln133Lys
  • NP_478123.1:p.Gln133Lys
  • LRG_314t1:c.397C>A
  • LRG_314:g.7581C>A
  • NC_000017.10:g.56772543C>A
  • NM_058216.1:c.397C>A
  • NM_058216.2:c.397C>A
  • NR_103872.2:n.439C>A
  • NR_103873.1:n.365C>A
Protein change:
Q133K
Links:
dbSNP: rs387907159
NCBI 1000 Genomes Browser:
rs387907159
Molecular consequence:
  • NM_002876.4:c.397C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_058216.3:c.397C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_103872.2:n.439C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_103873.1:n.365C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000293947GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jul 2, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000293947.9

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is denoted RAD51C c.397C>A at the cDNA level, p.Gln133Lys (Q133K) at the protein level, and results in the change of a Glutamine to a Lysine (CAA>AAA). This variant has been identified in at least one individual with ovarian cancer and in one individual with breast cancer (Cunningham 2014, Song 2015, Hauke 2018). RAD51C Gln133Lys was not observed in large population cohorts (Lek 2016). This variant is located in the region of interaction with RAD51B, RAD51D and XRCC3 (Miller 2004). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether RAD51C Gln133Lys is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024