NM_000059.4(BRCA2):c.9821T>G (p.Leu3274Trp) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Mar 16, 2018
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:: RCV000083010.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.9821T>G (p.Leu3274Trp)]

NM_000059.4(BRCA2):c.9821T>G (p.Leu3274Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.9821T>G (p.Leu3274Trp)

HGVS:

NC_000013.11:g.32398334T>G
NG_012772.3:g.87855T>G
NM_000059.4:c.9821T>GMANE SELECT
NP_000050.2:p.Leu3274Trp
NP_000050.3:p.Leu3274Trp
LRG_293t1:c.9821T>G
LRG_293:g.87855T>G
LRG_293p1:p.Leu3274Trp
NC_000013.10:g.32972471T>G
NM_000059.3:c.9821T>G
p.L3274W

Nucleotide change:

10049T>G

Protein change:

L3274W

Links:

dbSNP: rs431825380

NCBI 1000 Genomes Browser:

rs431825380

Molecular consequence:

NM_000059.4:c.9821T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2)
Synonyms:: Breast-ovarian cancer, familial 2
Identifiers:: MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000115084	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Uncertain significance (Sep 3, 2009)	germline	clinical testing
SCV000786202	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Uncertain significance (Mar 16, 2018)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 24249303, 24504028, 28767289 Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000115084

Sharing Clinical Reports Project (SCRP)

no assertion criteria provided

Uncertain significance
(Sep 3, 2009)

germline

clinical testing

SCV000786202

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Uncertain significance
(Mar 16, 2018)

unknown

clinical testing

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

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	not provided	not provided	1	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Prevalence and differentiation of hereditary breast and ovarian cancers in Japan.

Nakamura S, Takahashi M, Tozaki M, Nakayama T, Nomizu T, Miki Y, Murakami Y, Aoki D, Iwase T, Nishimura S, Yamauchi H, Ohsumi S, Baba S, Shimizu T.

Breast Cancer. 2015 Sep;22(5):462-8. doi: 10.1007/s12282-013-0503-1. Epub 2013 Nov 19.

PubMed [citation]

PMID:: 24249303

Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status.

Cunningham JM, Cicek MS, Larson NB, Davila J, Wang C, Larson MC, Song H, Dicks EM, Harrington P, Wick M, Winterhoff BJ, Hamidi H, Konecny GE, Chien J, Bibikova M, Fan JB, Kalli KR, Lindor NM, Fridley BL, Pharoah PP, Goode EL.

Sci Rep. 2014 Feb 7;4:4026. doi: 10.1038/srep04026.

PubMed [citation]

PMID:: 24504028
PMCID:: PMC4168524

See all PubMed Citations (3)

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000115084.2

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

From Counsyl, SCV000786202.2

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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