NM_058216.3(RAD51C):c.409C>T (p.Gln137Ter) AND Fanconi anemia complementation group O

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 17, 2021
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:: RCV001862971.4

Allele description [Variation Report for NM_058216.3(RAD51C):c.409C>T (p.Gln137Ter)]

NM_058216.3(RAD51C):c.409C>T (p.Gln137Ter)

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.409C>T (p.Gln137Ter)

HGVS:

NC_000017.11:g.58696697C>T
NG_023199.1:g.9096C>T
NG_047169.1:g.383G>A
NM_058216.1:c.409C>T
NM_058216.3:c.409C>TMANE SELECT
NP_478123.1:p.Gln137Ter
LRG_314t1:c.409C>T
LRG_314:g.9096C>T
NC_000017.10:g.56774058C>T
NC_000017.10:g.56774058C>T
NM_058216.2:c.409C>T
NM_058216.3:c.409C>T

Protein change:

Q137*

Links:

dbSNP: rs2048021234

NCBI 1000 Genomes Browser:

rs2048021234

Molecular consequence:

NM_058216.3:c.409C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Fanconi anemia complementation group O
Identifiers:: MONDO: MONDO:0013248; MedGen: C3150653; Orphanet: 84; OMIM: 613390

Recent activity

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guanine nucleotide-binding protein subunit beta-2 [Capsicum annuum]
guanine nucleotide-binding protein subunit beta-2 [Capsicum annuum]
gi|1027855826|ref|NP_001311601.1|

Protein
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002233137	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Aug 17, 2021)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 20400964, 21990120, 24800917, 26911350, 29470806, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002233137

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Aug 17, 2021)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene.

Meindl A, Hellebrand H, Wiek C, Erven V, Wappenschmidt B, Niederacher D, Freund M, Lichtner P, Hartmann L, Schaal H, Ramser J, Honisch E, Kubisch C, Wichmann HE, Kast K, Deissler H, Engel C, Müller-Myhsok B, Neveling K, Kiechle M, Mathew CG, Schindler D, et al.

Nat Genet. 2010 May;42(5):410-4. doi: 10.1038/ng.569. Epub 2010 Apr 18.

PubMed [citation]

PMID:: 20400964

Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients.

Thompson ER, Boyle SE, Johnson J, Ryland GL, Sawyer S, Choong DY, kConFab, Chenevix-Trench G, Trainer AH, Lindeman GJ, Mitchell G, James PA, Campbell IG.

Hum Mutat. 2012 Jan;33(1):95-9. doi: 10.1002/humu.21625. Epub 2011 Nov 4.

PubMed [citation]

PMID:: 21990120

See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002233137.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln137*) in the RAD51C gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAD51C are known to be pathogenic (PMID: 20400964, 21990120, 24800917). This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 26911350, 29470806). ClinVar contains an entry for this variant (Variation ID: 925917). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024

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