NM_000059.4(BRCA2):c.2812_2815del (p.Ala938fs) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 11, 2014
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000044066.12

Allele description [Variation Report for NM_000059.4(BRCA2):c.2812_2815del (p.Ala938fs)]

NM_000059.4(BRCA2):c.2812_2815del (p.Ala938fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.2812_2815del (p.Ala938fs)

HGVS:

NC_000013.11:g.32337167_32337170del
NG_012772.3:g.26688_26691del
NM_000059.4:c.2812_2815delMANE SELECT
NM_000059.4:c.2812_2815delGCAA
NP_000050.3:p.Ala938fs
LRG_293:g.26688_26691del
NC_000013.10:g.32911304_32911307del
NM_000059.3:c.2812_2815delGCAA
U43746.1:n.3040_3043delGCAA

Nucleotide change:

3040del4

Links:

Breast Cancer Information Core (BIC) (BRCA2): 3040&base_change=del GCAA; dbSNP: rs80359354

NCBI 1000 Genomes Browser:

rs80359354

Molecular consequence:

NM_000059.4:c.2812_2815del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Hereditary breast ovarian cancer syndrome
Synonyms:: Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

Recent activity

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zinc finger CW-type PWWP domain protein 2 isoform a [Homo sapiens]
zinc finger CW-type PWWP domain protein 2 isoform a [Homo sapiens]
gi|94536776|ref|NP_001035522.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000072079	Labcorp Genetics (formerly Invitae), Labcorp	no assertion criteria provided	Pathogenic (Jun 11, 2014)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000072079

Labcorp Genetics (formerly Invitae), Labcorp

no assertion criteria provided

Pathogenic
(Jun 11, 2014)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000072079.3

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

Description

The interpretation for this sequence variant was made by Invitae based on the ACMG guidelines. A more detailed explanation of the interpretation for this specific variant is forthcoming. This ClinVar entry will be updated at that time.

#	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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