NM_000059.4(BRCA2):c.2920G>A (p.Asp974Asn) AND Familial cancer of breast

Germline classification:: Uncertain significance (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV002250570.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.2920G>A (p.Asp974Asn)]

NM_000059.4(BRCA2):c.2920G>A (p.Asp974Asn)

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.2920G>A (p.Asp974Asn)

HGVS:

NC_000013.11:g.32337275G>A
NG_012772.3:g.26796G>A
NM_000059.4:c.2920G>AMANE SELECT
NP_000050.2:p.Asp974Asn
NP_000050.3:p.Asp974Asn
LRG_293t1:c.2920G>A
LRG_293:g.26796G>A
LRG_293p1:p.Asp974Asn
NC_000013.10:g.32911412G>A
NM_000059.3:c.2920G>A
p.D974N

Protein change:

D974N

Links:

dbSNP: rs539613324

NCBI 1000 Genomes Browser:

rs539613324

Molecular consequence:

NM_000059.4:c.2920G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Familial cancer of breast
Synonyms:: Breast cancer, familial; Hereditary breast cancer
Identifiers:: MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002520774	Center for Precision Medicine, Meizhou People's Hospital	no assertion criteria provided	Uncertain significance	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 31112341, 30982232, 27157322

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002520774

Center for Precision Medicine, Meizhou People's Hospital

no assertion criteria provided

Uncertain significance

germline

literature only

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	literature only

Citations

PubMed

BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge.

Padilla N, Moles-Fernández A, Riera C, Montalban G, Özkan S, Ootes L, Bonache S, Díez O, Gutiérrez-Enríquez S, de la Cruz X.

Hum Mutat. 2019 Sep;40(9):1593-1611. doi: 10.1002/humu.23802. Epub 2019 Jul 3.

PubMed [citation]

PMID:: 31112341
PMCID:: PMC6744361

Germline mutation landscape of Chinese patients with familial breast/ovarian cancer in a panel of 22 susceptibility genes.

Wang J, Li W, Shi Y, Huang Y, Sun T, Tang L, Lu Q, Lei Q, Liao N, Jin F, Li H, Huang T, Qian J, Pang D, Wang S, Fan P, Wu X, Lin Y, Qin H, Xu B.

Cancer Med. 2019 May;8(5):2074-2084. doi: 10.1002/cam4.2093. Epub 2019 Apr 13.

PubMed [citation]

PMID:: 30982232
PMCID:: PMC6536923

See all PubMed Citations (3)

Details of each submission

From Center for Precision Medicine, Meizhou People's Hospital, SCV002520774.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	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 3, 2024

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