NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) AND Neoplasm of ovary

This record was updated by the submitter. Please see the current version.

Germline classification:: 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:: RCV000785226.3

Allele description

NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)

Gene:

BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)

Other names:

NP_000050.3:p.Ser1982ArgfsTer22

HGVS:

NC_000013.11:g.32340301del
NG_012772.3:g.29822del
NM_000059.4:c.5946delMANE SELECT
NP_000050.3:p.Ser1982fs
LRG_293:g.29822del
NC_000013.10:g.32914438del
NC_000013.10:g.32914438delT
NM_000059.3:c.5946delT
NM_000059.4:c.5946delT
U43746.1:n.6174delT
c.5946delT
c.5946delT (BIC: 6174delT)
p.S1982Rfs*22
p.S1982RfsX22
p.Ser1982Argfs*22
p.Ser1982ArgfsX22
p.Ser1982fs

Nucleotide change:

6174delT

Protein change:

S1982fs

Links:

Breast Cancer Information Core (BIC) (BRCA2): 6174&base_change=del T; Genetic Testing Registry (GTR): GTR000530707; OMIM: 600185.0005; OMIM: 600185.0009; dbSNP: rs80359550

NCBI 1000 Genomes Browser:

rs80359550

Molecular consequence:

NM_000059.4:c.5946del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Neoplasm of ovary
Synonyms:: Ovarian tumor; OVARIAN CANCER, SOMATIC; Ovarian neoplasm; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0021068; MeSH: D010051; MedGen: C0919267; OMIM: 167000; Human Phenotype Ontology: HP:0100615

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000923794	German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne	no assertion criteria provided	Pathogenic (Dec 1, 2018)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000923794

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

no assertion criteria provided

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, SCV000923794.1

#	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: Aug 26, 2023

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