NM_058216.3(RAD51C):c.706-2A>G AND Ovarian neoplasm

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 1, 2018
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000785234.3

Allele description [Variation Report for NM_058216.3(RAD51C):c.706-2A>G]

NM_058216.3(RAD51C):c.706-2A>G

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.706-2A>G

Other names:

IVS4-2A>G

HGVS:

NC_000017.11:g.58709857A>G
NG_023199.1:g.22256A>G
NM_058216.3:c.706-2A>GMANE SELECT
LRG_314t1:c.706-2A>G
LRG_314:g.22256A>G
NC_000017.10:g.56787218A>G
NM_058216.1:c.706-2A>G
NM_058216.2:c.706-2A>G

Links:

dbSNP: rs587780259

NCBI 1000 Genomes Browser:

rs587780259

Molecular consequence:

NM_058216.3:c.706-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Functional consequence:

effect on RNA splicing [Variation Ontology: 0362]

Condition(s)

Name:: Ovarian neoplasm
Synonyms:: Neoplasm of ovary; Ovarian tumor; Ovarian Neoplasms
Identifiers:: MONDO: MONDO:0021068; MeSH: D010051; MedGen: C0919267; Human Phenotype Ontology: HP:0100615

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000923802	German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne	no assertion criteria provided	Likely pathogenic (Dec 1, 2018)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000923802

German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne

no assertion criteria provided

Likely pathogenic
(Dec 1, 2018)

germline

research

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	research

Details of each submission

From German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne, SCV000923802.1

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

#	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: Nov 3, 2024

ClinVar

Relating variation to medicine