NM_000059.4(BRCA2):c.469A>T (p.Lys157Ter) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:: Likely pathogenic (1 submission)
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:: RCV000856669.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.469A>T (p.Lys157Ter)]

NM_000059.4(BRCA2):c.469A>T (p.Lys157Ter)

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.469A>T (p.Lys157Ter)

Other names:

(p.Lys157Ter)

HGVS:

NC_000013.11:g.32326144A>T
NG_012772.3:g.15665A>T
NM_000059.4:c.469A>TMANE SELECT
NP_000050.2:p.Lys157Ter
NP_000050.3:p.Lys157Ter
LRG_293t1:c.469A>T
LRG_293:g.15665A>T
LRG_293p1:p.Lys157Ter
NC_000013.10:g.32900281A>T
NM_000059.3:c.469A>T

Protein change:

K157*

Links:

dbSNP: rs1593886887

NCBI 1000 Genomes Browser:

rs1593886887

Molecular consequence:

NM_000059.4:c.469A>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2)
Synonyms:: Breast-ovarian cancer, familial 2
Identifiers:: MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000998819	Genetic Diagnosis Center, Faculty of Medicine, Trakya University	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000998819

Genetic Diagnosis Center, Faculty of Medicine, Trakya University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Genetic Diagnosis Center, Faculty of Medicine, Trakya University, SCV000998819.1

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

#	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		1	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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