NM_000059.4(BRCA2):c.3515C>A (p.Ser1172Ter) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 15, 2017
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV000661679.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.3515C>A (p.Ser1172Ter)]

NM_000059.4(BRCA2):c.3515C>A (p.Ser1172Ter)

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.3515C>A (p.Ser1172Ter)

HGVS:

NC_000013.11:g.32337870C>A
NG_012772.3:g.27391C>A
NM_000059.4:c.3515C>AMANE SELECT
NP_000050.2:p.Ser1172Ter
NP_000050.3:p.Ser1172Ter
LRG_293t1:c.3515C>A
LRG_293:g.27391C>A
LRG_293p1:p.Ser1172Ter
NC_000013.10:g.32912007C>A
NM_000059.3:c.3515C>A
p.(Ser1172Ter)

Protein change:

S1172*

Links:

dbSNP: rs80358600

NCBI 1000 Genomes Browser:

rs80358600

Molecular consequence:

NM_000059.4:c.3515C>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000783983	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) - ENIGMA	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2017-06-29))	Pathogenic (Dec 15, 2017)	germline	curation	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000783983

Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) - ENIGMA

reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2017-06-29))

Pathogenic
(Dec 15, 2017)

germline

curation

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	curation

Details of each submission

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) - ENIGMA, SCV000783983.1

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

Description

Variant allele predicted to encode a truncated non-functional protein.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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