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

delete

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 1, 2013
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:: RCV001642209.1

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)

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.5946delTMANE SELECT
U43746.1:n.6174delT
c.5946delT
c.5946delT(BIC:6174delT)
p.S1982Rfs*22
p.S1982RfsX22
p.Ser1982Argfs*22
p.Ser1982ArgfsX22
p.Ser1982fs
NM_000059.3:c.5946delT(6174delT)

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:: Breast-ovarian cancer, familial 2 (BROVCA2)
Synonyms:: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; Breast cancer, familial 2
Identifiers:: MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

Name:: Breast-ovarian cancer, familial 1 (BROVCA1)
Synonyms:: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; OVARIAN CANCER, SUSCEPTIBILITY TO; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

Name:: Hereditary breast and ovarian cancer syndrome (HBOC)
Synonyms:: Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC)
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145; OMIM: PS604370

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001855199	Research and Development, ARUP Laboratories	criteria provided, single submitter (Plon et al Hum Mutat 2008 29:1282-91 Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results)	Pathogenic (Dec 1, 2013)	germline	curation	PubMed (3) [See all records that cite these PMIDs] 8673091, 15695382, 18951446 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001855199

Research and Development, ARUP Laboratories

criteria provided, single submitter

(Plon et al Hum Mutat 2008 29:1282-91 Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results)

Pathogenic
(Dec 1, 2013)

germline

curation

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

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	curation

Citations

PubMed

BRCA2 germline mutations in male breast cancer cases and breast cancer families.

Couch FJ, Farid LM, DeShano ML, Tavtigian SV, Calzone K, Campeau L, Peng Y, Bogden B, Chen Q, Neuhausen S, Shattuck-Eidens D, Godwin AK, Daly M, Radford DM, Sedlacek S, Rommens J, Simard J, Garber J, Merajver S, Weber BL.

Nat Genet. 1996 May;13(1):123-5.

PubMed [citation]

PMID:: 8673091

Functional evaluation and cancer risk assessment of BRCA2 unclassified variants.

Wu K, Hinson SR, Ohashi A, Farrugia D, Wendt P, Tavtigian SV, Deffenbaugh A, Goldgar D, Couch FJ.

Cancer Res. 2005 Jan 15;65(2):417-26.

PubMed [citation]

PMID:: 15695382

See all PubMed Citations (3)

Details of each submission

From Research and Development, ARUP Laboratories, SCV001855199.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (3)

#	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: Nov 11, 2021

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