NM_000059.4(BRCA2):c.8885_8950del (p.Leu2962_Asp2983del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 27, 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:: RCV003478410.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.8885_8950del (p.Leu2962_Asp2983del)]

NM_000059.4(BRCA2):c.8885_8950del (p.Leu2962_Asp2983del)

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.8885_8950del (p.Leu2962_Asp2983del)

HGVS:

NC_000013.11:g.32379447_32379512del
NG_012772.3:g.68968_69033del
NM_000059.4:c.8885_8950delMANE SELECT
NP_000050.2:p.Leu2962_Asp2983del
NP_000050.3:p.Leu2962_Asp2983del
LRG_293t1:c.8885_8950del
LRG_293:g.68968_69033del
LRG_293p1:p.Leu2962_Asp2983del
NC_000013.10:g.32953582_32953647del
NC_000013.10:g.32953584_32953649del
NM_000059.3:c.8885_8950del
NM_000059.3:c.8885_8950del
NM_000059.3:c.8885_8950del66
NM_000059.3:c.8885_8950del66
NM_000059.3:c.8885_8950delTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGATT

Links:

dbSNP: rs1566252712

NCBI 1000 Genomes Browser:

rs1566252712

Molecular consequence:

NM_000059.4:c.8885_8950del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004220631	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Uncertain significance (Jun 27, 2023)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 34196900, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004220631

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Uncertain significance
(Jun 27, 2023)

unknown

clinical testing

PubMed (2)
[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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Germline variants in hereditary breast cancer genes are associated with early age at diagnosis and family history in Guatemalan breast cancer.

Ren M, Orozco A, Shao K, Albanez A, Ortiz J, Cao B, Wang L, Barreda L, Alvarez CS, Garland L, Wu D, Chung CC, Wang J, Frone M, Ralon S, Argueta V, Orozco R, Gharzouzi E, Dean M.

Breast Cancer Res Treat. 2021 Sep;189(2):533-539. doi: 10.1007/s10549-021-06305-5. Epub 2021 Jul 1. Erratum in: Breast Cancer Res Treat. 2022 Jan;191(1):227. doi: 10.1007/s10549-021-06373-7.

PubMed [citation]

PMID:: 34196900
PMCID:: PMC8357728

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004220631.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

In the published literature, this variant has been reported in multiple individuals with breast cancer (PMID: 34196900 (2021)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, we are unable to determine the clinical significance of this variant.

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

Last Updated: Sep 29, 2024

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