NM_000059.4(BRCA2):c.8988_8990delinsTT (p.Leu2996fs) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Sep 8, 2016
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:: RCV000241303.10

Allele description [Variation Report for NM_000059.4(BRCA2):c.8988_8990delinsTT (p.Leu2996fs)]

NM_000059.4(BRCA2):c.8988_8990delinsTT (p.Leu2996fs)

Gene:

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

Variant type:

Indel

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.8988_8990delinsTT (p.Leu2996fs)

HGVS:

NC_000013.11:g.32379784_32379786delinsTT
NG_012772.3:g.69305_69307delinsTT
NM_000059.4:c.8988_8990delinsTTMANE SELECT
NP_000050.2:p.Leu2996fs
NP_000050.3:p.Leu2996fs
LRG_293t1:c.8988_8990delinsTT
LRG_293:g.69305_69307delinsTT
LRG_293p1:p.Leu2996fs
NC_000013.10:g.32953921_32953923delinsTT
NM_000059.3:c.8988_8990delATAinsTT
NM_000059.3:c.8988_8990delinsTT

Protein change:

L2996fs

Links:

dbSNP: rs397508027

NCBI 1000 Genomes Browser:

rs397508027

Molecular consequence:

NM_000059.4:c.8988_8990delinsTT - frameshift variant - [Sequence Ontology: SO:0001589]

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

Recent activity

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Mus musculus transmembrane and coiled-coil domains 2 (Tmcc2), transcript variant...
Mus musculus transmembrane and coiled-coil domains 2 (Tmcc2), transcript variant 3, mRNA
gi|902763167|ref|NM_001311108.1|

Nucleotide
synaptogyrin-1 isoform 1a [Homo sapiens]
synaptogyrin-1 isoform 1a [Homo sapiens]
gi|22035696|ref|NP_004702.2|

Protein
Profile neighbors for GEO Profiles (Select 132182530) (199)
GEO Profiles
Profile neighbors for GEO Profiles (Select 132174304) (199)
GEO Profiles
Profile neighbors for GEO Profiles (Select 132190927) (199)
GEO Profiles

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000301331	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Pathogenic (Sep 8, 2016)	germline	curation	ENIGMA BRCA1/2 Classification Criteria (2015), Citation Link,
SCV000577972	Genologica Medica See additional submitters Servicio Andaluz de Salud, Hospital Universitario Virgen de la Victoria	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 1, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000301331

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

reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2015))

Pathogenic
(Sep 8, 2016)

germline

curation

ENIGMA BRCA1/2 Classification Criteria (2015),

Citation Link,

SCV000577972

Genologica Medica

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 1, 2017)

germline

clinical testing

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

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
Causasians	germline	yes	not provided	1	not provided	not provided	yes	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

Details of each submission

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000301331.2

#	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

From Genologica Medica, SCV000577972.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Causasians	not provided	not provided	yes	clinical testing	PubMed (1)

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

Last Updated: Oct 26, 2024

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