NM_000059.4(BRCA2):c.7040C>A (p.Pro2347Gln) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 4, 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:: RCV000481408.6

Allele description [Variation Report for NM_000059.4(BRCA2):c.7040C>A (p.Pro2347Gln)]

NM_000059.4(BRCA2):c.7040C>A (p.Pro2347Gln)

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.7040C>A (p.Pro2347Gln)

HGVS:

NC_000013.11:g.32354893C>A
NG_012772.3:g.44414C>A
NM_000059.4:c.7040C>AMANE SELECT
NP_000050.2:p.Pro2347Gln
NP_000050.3:p.Pro2347Gln
LRG_293t1:c.7040C>A
LRG_293:g.44414C>A
LRG_293p1:p.Pro2347Gln
NC_000013.10:g.32929030C>A
NM_000059.3:c.7040C>A
U43746.1:n.7268C>A
p.P2347Q

Protein change:

P2347Q

Links:

dbSNP: rs80358929

NCBI 1000 Genomes Browser:

rs80358929

Molecular consequence:

NM_000059.4:c.7040C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000917007	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Dec 4, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 21741379, 21952622 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000917007

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Dec 4, 2017)

germline

clinical testing

PubMed (2)
[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	clinical testing

Citations

PubMed

A new assay for functional screening of BRCA2 linker region mutations identifies variants that alter chemoresistance to cisplatin.

Warren CR, Catts ZA, Farach-Carson MC.

Exp Cell Res. 2011 Sep 10;317(15):2099-109. doi: 10.1016/j.yexcr.2011.06.010. Epub 2011 Jun 29.

PubMed [citation]

PMID:: 21741379
PMCID:: PMC3173042

BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: implications for genetic testing in prostate cancer patients.

Kote-Jarai Z, Leongamornlert D, Saunders E, Tymrakiewicz M, Castro E, Mahmud N, Guy M, Edwards S, O'Brien L, Sawyer E, Hall A, Wilkinson R, Dadaev T, Goh C, Easton D; UKGPCS Collaborators., Goldgar D, Eeles R.

Br J Cancer. 2011 Oct 11;105(8):1230-4. doi: 10.1038/bjc.2011.383. Epub 2011 Sep 27.

PubMed [citation]

PMID:: 21952622
PMCID:: PMC3208504

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000917007.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

Variant summary: The BRCA2 c.7040C>A (p.Pro2347Gln) variant involves the alteration of a non-conserved nucleotide and 3/4 in silico tools predict a damaging outcome for this variant (SNPsandGO not captured due to low reliability index). However, these predictions have yet to be functionally assessed. This variant is absent in 245898 control chromosomes (gnomAD). A publication, Alsop_2012 reports the variant in a patient that co-occurred with an unidentified pathogenic BRCA1/2 mutation. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as uncertain significance. Taken together, this variant is classified as a "Variant of Uncertain Significance (VUS)."

#	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: Apr 20, 2024

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