NM_000059.4(BRCA2):c.9997C>G (p.Leu3333Val) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 24, 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:: RCV000662506.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.9997C>G (p.Leu3333Val)]

NM_000059.4(BRCA2):c.9997C>G (p.Leu3333Val)

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.9997C>G (p.Leu3333Val)

HGVS:

NC_000013.11:g.32398510C>G
NG_012772.3:g.88031C>G
NM_000059.4:c.9997C>GMANE SELECT
NP_000050.2:p.Leu3333Val
NP_000050.3:p.Leu3333Val
LRG_293t1:c.9997C>G
LRG_293:g.88031C>G
LRG_293p1:p.Leu3333Val
NC_000013.10:g.32972647C>G
NM_000059.3:c.9997C>G
p.L3333V

Protein change:

L3333V

Links:

dbSNP: rs567476314

NCBI 1000 Genomes Browser:

rs567476314

Molecular consequence:

NM_000059.4:c.9997C>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000785035	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Uncertain significance (Mar 24, 2017)	unknown	clinical testing	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

SCV000785035

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Uncertain significance
(Mar 24, 2017)

unknown

clinical testing

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Counsyl, SCV000785035.2

#	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	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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