NM_000059.4(BRCA2):c.7436-2_7437del AND Hereditary breast ovarian cancer syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 8, 2020
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:: RCV001215895.15

Allele description [Variation Report for NM_000059.4(BRCA2):c.7436-2_7437del]

NM_000059.4(BRCA2):c.7436-2_7437del

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.7436-2_7437del

HGVS:

NC_000013.11:g.32356426_32356429del
NG_012772.3:g.45947_45950del
NM_000059.4:c.7436-2_7437delMANE SELECT
LRG_293t1:c.7436-2_7437del
LRG_293:g.45947_45950del
NC_000013.10:g.32930560_32930563del
NC_000013.10:g.32930563_32930566del
NM_000059.3:c.7436-2_7437del
NM_000059.3:c.7436-2_7437delAGAT

Links:

dbSNP: rs876659229

NCBI 1000 Genomes Browser:

rs876659229

Molecular consequence:

NM_000059.4:c.7436-2_7437del - splice acceptor variant - [Sequence Ontology: SO:0001574]

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

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Homo sapiens chloride intracellular channel 5 (CLIC5), RefSeqGene on chromosome ...
Homo sapiens chloride intracellular channel 5 (CLIC5), RefSeqGene on chromosome 6
gi|2310184767|ref|NG_031965.2|

Nucleotide
Bacteria 16S ribosomal RNA gene, partial sequence.
Bacteria 16S ribosomal RNA gene, partial sequence.
PopSet: 1038018596

PopSet
Mus musculus SRY-box containing gene 6, mRNA (cDNA clone MGC:76695 IMAGE:3009441...
Mus musculus SRY-box containing gene 6, mRNA (cDNA clone MGC:76695 IMAGE:30094413), complete cds
gi|45708964|gb|BC067407.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001387663	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely pathogenic (Apr 8, 2020)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 20104584, 19949876, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001387663

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely pathogenic
(Apr 8, 2020)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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	clinical testing

Citations

PubMed

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

Borg A, Haile RW, Malone KE, Capanu M, Diep A, Törngren T, Teraoka S, Begg CB, Thomas DC, Concannon P, Mellemkjaer L, Bernstein L, Tellhed L, Xue S, Olson ER, Liang X, Dolle J, Børresen-Dale AL, Bernstein JL.

Hum Mutat. 2010 Mar;31(3):E1200-40. doi: 10.1002/humu.21202.

PubMed [citation]

PMID:: 20104584
PMCID:: PMC2928257

Efficiency of BRCAPRO and Myriad II mutation probability thresholds versus cancer history criteria alone for BRCA1/2 mutation detection.

van Harssel JJ, van Roozendaal CE, Detisch Y, Brandão RD, Paulussen AD, Zeegers M, Blok MJ, Gómez García EB.

Fam Cancer. 2010 Jun;9(2):193-201. doi: 10.1007/s10689-009-9305-1.

PubMed [citation]

PMID:: 19949876
PMCID:: PMC2871096

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001387663.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant, also known as "c.7436_7437-2delAGAT" in the literature, has been reported in a family affected with breast and/or ovarian cancer (PMID: 19949876). ClinVar contains an entry for this variant (Variation ID: 231567). This variant is a deletion of the genomic region encompassing part of intron 14 and part of exon 15 (c.7436-2_7437del) of the BRCA2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

#	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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