NM_000059.4(BRCA2):c.2946A>G (p.Ile982Met) 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:: RCV002250485.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.2946A>G (p.Ile982Met)]

NM_000059.4(BRCA2):c.2946A>G (p.Ile982Met)

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.2946A>G (p.Ile982Met)

Other names:

p.I982M:ATA>ATG

HGVS:

NC_000013.11:g.32337301A>G
NG_012772.3:g.26822A>G
NM_000059.4:c.2946A>GMANE SELECT
NP_000050.2:p.Ile982Met
NP_000050.3:p.Ile982Met
LRG_293t1:c.2946A>G
LRG_293:g.26822A>G
LRG_293p1:p.Ile982Met
NC_000013.10:g.32911438A>G
NM_000059.3:c.2946A>G
U43746.1:n.3174A>G
p.I982M

Nucleotide change:

3174A>G

Protein change:

I982M

Links:

dbSNP: rs80358541

NCBI 1000 Genomes Browser:

rs80358541

Molecular consequence:

NM_000059.4:c.2946A>G - 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
SCV002520775	Center for Precision Medicine, Meizhou People's Hospital	no assertion criteria provided	Uncertain significance	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002520775

Center for Precision Medicine, Meizhou People's Hospital

no assertion criteria provided

Uncertain significance

germline

literature only

PubMed (1)
[See all records that cite this PMID]

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

Prevalence of BRCA1/BRCA2 pathogenic variation in Chinese Han population.

Dong H, Chandratre K, Qin Y, Zhang J, Tian X, Rong C, Wang N, Guo M, Zhao G, Wang SM.

J Med Genet. 2021 Aug;58(8):565-569. doi: 10.1136/jmedgenet-2020-106970. Epub 2020 May 28.

PubMed [citation]

PMID:: 32467295

Details of each submission

From Center for Precision Medicine, Meizhou People's Hospital, SCV002520775.1

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

Last Updated: Sep 29, 2024

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