NM_000059.4(BRCA2):c.82_147del (p.Leu29_Ser50del) AND Ovarian serous surface papillary adenocarcinoma

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 14, 2017
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:: RCV000677835.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.82_147del (p.Leu29_Ser50del)]

NM_000059.4(BRCA2):c.82_147del (p.Leu29_Ser50del)

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.82_147del (p.Leu29_Ser50del)

HGVS:

NC_000013.11:g.32319091_32319156del
NG_012772.3:g.8612_8677del
NG_017006.2:g.1209_1274del
NM_000059.4:c.82_147delMANE SELECT
NP_000050.3:p.Leu29_Ser50del
LRG_293:g.8612_8677del
NC_000013.10:g.32893228_32893293del

Links:

dbSNP: rs1593882341

NCBI 1000 Genomes Browser:

rs1593882341

Molecular consequence:

NM_000059.4:c.82_147del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Ovarian serous surface papillary adenocarcinoma
Identifiers:: MONDO: MONDO:0003874; MedGen: C1335178

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000803995	3DMed Clinical Laboratory Inc	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jun 14, 2017)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 18704680, 16793542, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000803995

3DMed Clinical Laboratory Inc

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jun 14, 2017)

germline

clinical testing

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

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

Citations

PubMed

BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research.

Neuhausen SL, Ozcelik H, Southey MC, John EM, Godwin AK, Chung W, Iriondo-Perez J, Miron A, Santella RM, Whittemore A, Andrulis IL, Buys SS, Daly MB, Hopper JL, Seminara D, Senie RT, Terry MB; Breast Cancer Family Registry..

Breast Cancer Res Treat. 2009 Jul;116(2):379-86. doi: 10.1007/s10549-008-0153-8. Epub 2008 Aug 14.

PubMed [citation]

PMID:: 18704680
PMCID:: PMC2775077

Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2.

Xia B, Sheng Q, Nakanishi K, Ohashi A, Wu J, Christ N, Liu X, Jasin M, Couch FJ, Livingston DM.

Mol Cell. 2006 Jun 23;22(6):719-729. doi: 10.1016/j.molcel.2006.05.022.

PubMed [citation]

PMID:: 16793542

See all PubMed Citations (3)

Details of each submission

From 3DMed Clinical Laboratory Inc, SCV000803995.1

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

#	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 5, 2022

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