NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jul 30, 2024
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:: RCV000483994.7

Allele description [Variation Report for NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter)]

NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter)

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>T (p.Gln133Ter)

HGVS:

NC_000017.11:g.58695182C>T
NG_023199.1:g.7581C>T
NG_047169.1:g.1898G>A
NM_002876.4:c.397C>T
NM_058216.3:c.397C>TMANE SELECT
NP_002867.1:p.Gln133Ter
NP_478123.1:p.Gln133Ter
LRG_314t1:c.397C>T
LRG_314:g.7581C>T
NC_000017.10:g.56772543C>T
NM_058216.1:c.397C>T
NM_058216.2:c.397C>T
NR_103872.2:n.439C>T
NR_103873.1:n.365C>T

Protein change:

Q133*; GLN133TER

Links:

Counsyl: 71036; OMIM: 602774.0005; dbSNP: rs387907159

NCBI 1000 Genomes Browser:

rs387907159

Molecular consequence:

NR_103872.2:n.439C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_103873.1:n.365C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_002876.4:c.397C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_058216.3:c.397C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000567793	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Jul 30, 2024)	germline	clinical testing	Citation Link,
SCV001365256	Leiden Open Variation Database	no assertion criteria provided	Pathogenic (Aug 25, 2011)	germline	curation	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000567793

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Jul 30, 2024)

germline

clinical testing

Citation Link,

SCV001365256

Leiden Open Variation Database

no assertion criteria provided

Pathogenic
(Aug 25, 2011)

germline

curation

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

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

Details of each submission

From GeneDx, SCV000567793.6

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

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29922827, 28888541, 22538716, 25470109, 21990120, 28281021, 23117857, 32885271, 33804961, 29625052, 34887416, 36451132, 31784482)

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

From Leiden Open Variation Database, SCV001365256.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (1)

Description

Curator: Arleen D. Auerbach. Submitter to LOVD: Ian Campbell.

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

Last Updated: Oct 13, 2024

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