NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter) AND Inherited ovarian cancer (without breast cancer)

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 6, 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:: RCV004808593.1

Allele description [Variation Report for NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter)]

NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter)

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.97C>T (p.Gln33Ter)

Other names:

p.Q33*:CAG>TAG

HGVS:

NC_000017.11:g.58692740C>T
NG_023199.1:g.5139C>T
NG_047169.1:g.4340G>A
NM_002876.4:c.97C>T
NM_058216.3:c.97C>TMANE SELECT
NP_002867.1:p.Gln33Ter
NP_478123.1:p.Gln33Ter
LRG_314t1:c.97C>T
LRG_314:g.5139C>T
NC_000017.10:g.56770101C>T
NM_002876.2:c.97C>T
NM_058216.1:c.97C>T
NM_058216.2:c.97C>T
NR_103872.2:n.139C>T
p.Q33*

Protein change:

Q33*

Links:

dbSNP: rs587782528

NCBI 1000 Genomes Browser:

rs587782528

Molecular consequence:

NR_103872.2:n.139C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_002876.4:c.97C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_058216.3:c.97C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Inherited ovarian cancer (without breast cancer)
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005431510	Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service	criteria provided, single submitter (ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2020)	Likely pathogenic (Sep 6, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005431510

Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service

criteria provided, single submitter

(ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2020)

Likely pathogenic
(Sep 6, 2024)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service, SCV005431510.1

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

Description

PVS1,PM5_Supporting

#	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: Feb 25, 2025

ClinVar

Relating variation to medicine