NM_000059.4(BRCA2):c.3836A>G (p.Asn1279Ser) AND Familial cancer of breast

Germline classification:: Likely benign (1 submission)
Last evaluated:: Feb 9, 2024
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:: RCV003607287.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.3836A>G (p.Asn1279Ser)]

NM_000059.4(BRCA2):c.3836A>G (p.Asn1279Ser)

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.3836A>G (p.Asn1279Ser)

HGVS:

NC_000013.11:g.32338191A>G
NG_012772.3:g.27712A>G
NM_000059.4:c.3836A>GMANE SELECT
NP_000050.2:p.Asn1279Ser
NP_000050.3:p.Asn1279Ser
LRG_293t1:c.3836A>G
LRG_293:g.27712A>G
LRG_293p1:p.Asn1279Ser
NC_000013.10:g.32912328A>G
NM_000059.3:c.3836A>G

Protein change:

N1279S

Links:

dbSNP: rs1060502384

NCBI 1000 Genomes Browser:

rs1060502384

Molecular consequence:

NM_000059.4:c.3836A>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
SCV002579733	MGZ Medical Genetics Center	criteria provided, single submitter (CSpec BRCA1/2ACMG Rules Specifications V1.1.0)	Likely benign (Feb 9, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002579733

MGZ Medical Genetics Center

criteria provided, single submitter

(CSpec BRCA1/2ACMG Rules Specifications V1.1.0)

Likely benign
(Feb 9, 2024)

germline

clinical testing

Citation Link

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	clinical testing

Details of each submission

From MGZ Medical Genetics Center, SCV002579733.2

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

Description

ACMG codes applied following ENIGMA VCEP rules: BP1_STR, PM2_SUP

#	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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Relating variation to medicine