NM_000059.4(BRCA2):c.4101dup (p.Leu1368fs) 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:: RCV000661837.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.4101dup (p.Leu1368fs)]

NM_000059.4(BRCA2):c.4101dup (p.Leu1368fs)

Gene:

BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.4101dup (p.Leu1368fs)

HGVS:

NC_000013.11:g.32338456dup
NG_012772.3:g.27977dup
NM_000059.4:c.4101dupMANE SELECT
NM_000059.4:c.4101dupA
NP_000050.3:p.Leu1368fs
LRG_293:g.27977dup
NC_000013.10:g.32912593dup
NM_000059.3:c.4101dupA
p.(Leu1368IlefsTer14)

Protein change:

L1368fs

Links:

dbSNP: rs397507705

NCBI 1000 Genomes Browser:

rs397507705

Molecular consequence:

NM_000059.4:c.4101dup - frameshift variant - [Sequence Ontology: SO:0001589]

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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Golovinomyces cichoracearum isolate UMSG3, whole genome shotgun sequencing project
gi|1485690359|gb|MCBQ00000000.1|MCB 0000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000784161	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

SCV000784161

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

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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, SCV000784161.1

#	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: Oct 26, 2024

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