NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Benign (4 submissions)
Last evaluated:: Feb 1, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000320859.21

Allele description [Variation Report for NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp)]

NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp)

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.2971A>G (p.Asn991Asp)

Other names:

p.N991D:AAC>GAC; 3199 A>G; NP_000050.3:p.Asn991Asp

HGVS:

NC_000013.11:g.32337326A>G
NG_012772.3:g.26847A>G
NM_000059.4:c.2971A>GMANE SELECT
NP_000050.2:p.Asn991Asp
NP_000050.3:p.Asn991Asp
LRG_293t1:c.2971A>G
LRG_293:g.26847A>G
LRG_293p1:p.Asn991Asp
NC_000013.10:g.32911463A>G
NM_000059.3:c.2971A>G
NM_000059.4:c.2971A>G
U43746.1:n.3199A>G
p.N991D

Nucleotide change:

3199A>G

Protein change:

N991D

Links:

dbSNP: rs1799944

NCBI 1000 Genomes Browser:

rs1799944

Molecular consequence:

NM_000059.4:c.2971A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Hereditary breast ovarian cancer syndrome
Synonyms:: Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

Recent activity

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PREDICTED: Rattus norvegicus COP9 signalosome subunit 7A (Cops7a), transcript va...
PREDICTED: Rattus norvegicus COP9 signalosome subunit 7A (Cops7a), transcript variant X2, mRNA
gi|2678938042|ref|XM_039107675.2|

Nucleotide
UI-R-DZ0-cro-d-18-0-UI.s1 NCI_CGAP_DZ0 Rattus norvegicus cDNA clone IMAGE:734253...
UI-R-DZ0-cro-d-18-0-UI.s1 NCI_CGAP_DZ0 Rattus norvegicus cDNA clone IMAGE:7342532 3', mRNA sequence
gi|28860519|gnl|dbEST|17062132|gb|C 21.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000494357	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Benign (Jan 13, 2014)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 18607349, 22684231, 9971877, 21232165 LabCorp Variant Classification Summary - May 2015.docx, Citation Link,
SCV001000607	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Feb 1, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002026085	National Health Laboratory Service, Universitas Academic Hospital and University of the Free State	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Apr 19, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002515262	Genetics Program, Instituto Nacional de Cancer	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Nov 1, 2021)	germline	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 36329109

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	82	not provided	not provided	not provided	not provided	clinical testing, research
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2.

Kuznetsov SG, Liu P, Sharan SK.

Nat Med. 2008 Aug;14(8):875-81. doi: 10.1038/nm.1719. Epub 2008 Jul 6.

PubMed [citation]

PMID:: 18607349
PMCID:: PMC2640324

BRCA1 and BRCA2 unclassified variants and missense polymorphisms in Algerian breast/ovarian cancer families.

Cherbal F, Salhi N, Bakour R, Adane S, Boualga K, Maillet P.

Dis Markers. 2012;32(6):343-53. doi: 10.3233/DMA-2012-0893.

PubMed [citation]

PMID:: 22684231
PMCID:: PMC3826381

See all PubMed Citations (7)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000494357.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

#	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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001000607.6

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

#	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

From National Health Laboratory Service, Universitas Academic Hospital and University of the Free State, SCV002026085.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	82	not provided	not provided	clinical testing	PubMed (1)

#	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		82	not provided	not provided	not provided

From Genetics Program, Instituto Nacional de Cancer, SCV002515262.1

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

#	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 10, 2024

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