NM_000059.4(BRCA2):c.4151del (p.Leu1384fs) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 15, 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:: RCV001385533.13

Allele description [Variation Report for NM_000059.4(BRCA2):c.4151del (p.Leu1384fs)]

NM_000059.4(BRCA2):c.4151del (p.Leu1384fs)

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.4151del (p.Leu1384fs)

HGVS:

NC_000013.11:g.32338506del
NG_012772.3:g.28027del
NM_000059.4:c.4151delMANE SELECT
NM_000059.4:c.4151delT
NP_000050.3:p.Leu1384fs
LRG_293:g.28027del
NC_000013.10:g.32912641del
NC_000013.10:g.32912643del
NM_000059.3:c.4151delT
p.(Leu1384CysfsTer4)

Links:

dbSNP: rs397507710

NCBI 1000 Genomes Browser:

rs397507710

Molecular consequence:

NM_000059.4:c.4151del - 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

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poly -binding protein 3 isoform 2, partial [Nannochloropsis gaditana CCMP526]
poly -binding protein 3 isoform 2, partial [Nannochloropsis gaditana CCMP526]
gi|553182381|ref|XP_005853721.1|

Protein
EHH18940 (0)
MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001585416	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Sep 15, 2020)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 18006916, 30702160, 20104584, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001585416

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Sep 15, 2020)

germline

clinical testing

PubMed (4)
[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

BRCA1 and BRCA2 mutations in an Asian clinic-based population detected using a comprehensive strategy.

Ang P, Lim IH, Lee TC, Luo JT, Ong DC, Tan PH, Lee AS.

Cancer Epidemiol Biomarkers Prev. 2007 Nov;16(11):2276-84.

PubMed [citation]

PMID:: 18006916

Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

Bhaskaran SP, Chandratre K, Gupta H, Zhang L, Wang X, Cui J, Kim YC, Sinha S, Jiang L, Lu B, Wu X, Qin Z, Huang T, Wang SM.

Int J Cancer. 2019 Aug 15;145(4):962-973. doi: 10.1002/ijc.32176. Epub 2019 Feb 13.

PubMed [citation]

PMID:: 30702160
PMCID:: PMC6617753

See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001585416.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Leu1384Cysfs*4) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with personal or family history of breast and/or ovarian cancer (PMID: 18006916, 30702160). This variant is also known as 4379delT in the literature. ClinVar contains an entry for this variant (Variation ID: 51606). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.

#	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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