NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) AND Familial cancer of breast

Germline classification:: Benign (2 submissions)
Last evaluated:: Feb 23, 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:: RCV000460200.10

Allele description [Variation Report for NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val)]

NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val)

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.10234A>G (p.Ile3412Val)

Other names:

10462 A>G; NP_000050.3:p.Ile3412Val

HGVS:

NC_000013.11:g.32398747A>G
NG_012772.3:g.88268A>G
NM_000059.4:c.10234A>GMANE SELECT
NP_000050.2:p.Ile3412Val
NP_000050.3:p.Ile3412Val
LRG_293t1:c.10234A>G
LRG_293:g.88268A>G
LRG_293p1:p.Ile3412Val
NC_000013.10:g.32972884A>G
NM_000059.3:c.10234A>G
NM_000059.4:c.10234A>G
U43746.1:n.10462A>G
p.I3412V

Nucleotide change:

10462A>G

Protein change:

I3412V

Links:

dbSNP: rs1801426

NCBI 1000 Genomes Browser:

rs1801426

Molecular consequence:

NM_000059.4:c.10234A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Familial cancer of breast
Synonyms:: Breast cancer, familial
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
SCV000541023	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Feb 23, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002520853	Center for Precision Medicine, Meizhou People's Hospital	no assertion criteria provided	Likely benign	germline	literature only	PubMed (5) [See all records that cite these PMIDs] 22703879, 21356067, 17341484, 24884479, 23469205

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000541023

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Feb 23, 2017)

germline

clinical testing

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

SCV002520853

Center for Precision Medicine, Meizhou People's Hospital

no assertion criteria provided

Likely benign

germline

literature only

PubMed (5)
[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
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG.

Am J Hum Genet. 2012 Jul 13;91(1):97-108. doi: 10.1016/j.ajhg.2012.05.021. Epub 2012 Jun 14.

PubMed [citation]

PMID:: 22703879
PMCID:: PMC3397257

See all PubMed Citations (6)

Details of each submission

From Baylor Genetics, SCV000541023.1

#	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	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Center for Precision Medicine, Meizhou People's Hospital, SCV002520853.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (5)

#	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: Apr 20, 2024

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