NM_000059.4(BRCA2):c.537dup (p.Ile180fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 6, 2023
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:: RCV000771279.13

Allele description [Variation Report for NM_000059.4(BRCA2):c.537dup (p.Ile180fs)]

NM_000059.4(BRCA2):c.537dup (p.Ile180fs)

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.537dup (p.Ile180fs)

HGVS:

NC_000013.11:g.32326519dup
NG_012772.3:g.16040dup
NM_000059.4:c.537dupMANE SELECT
NP_000050.2:p.Ile180fs
NP_000050.3:p.Ile180fs
LRG_293t1:c.537dup
LRG_293:g.16040dup
LRG_293p1:p.Ile180fs
NC_000013.10:g.32900656dup
NM_000059.3:c.537dup
NM_000059.3:c.537dupT

Protein change:

I180fs

Links:

dbSNP: rs1566219199

NCBI 1000 Genomes Browser:

rs1566219199

Molecular consequence:

NM_000059.4:c.537dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000903431	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 6, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 31209999, 32862574, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000903431

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 6, 2023)

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

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.

Laitman Y, Friebel TM, Yannoukakos D, Fostira F, Konstantopoulou I, Figlioli G, Bonanni B, Manoukian S, Zuradelli M, Tondini C, Pasini B, Peterlongo P, Plaseska-Karanfilska D, Jakimovska M, Majidzadeh K, Zarinfam S, Loizidou MA, Hadjisavvas A, Michailidou K, Kyriacou K, Behar DM, Molho RB, et al.

Hum Mutat. 2019 Nov;40(11):e1-e23. doi: 10.1002/humu.23842. Epub 2019 Jul 26.

PubMed [citation]

PMID:: 31209999

Genetic screening results of individuals with high risk BRCA-related breast/ovarian cancer in Trakya region of Turkey.

Demir S, Tozkir H, Gurkan H, Atli EI, Yalcintepe S, Atli E, Sezer YA, Eker D, Tuncbilek N, Tastekin E, Ozen Y, Cicin I.

J BUON. 2020 May-Jun;25(3):1337-1347.

PubMed [citation]

PMID:: 32862574

See all PubMed Citations (3)

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV000903431.4

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

Description

This variant inserts 1 nucleotide in exon 7 of the BRCA2 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in at least four individuals with a personal or family history of breast and/or ovarian cancer (PMID: 31209999, 32862574, 32862574). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is 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

ClinVar

Relating variation to medicine