NC_000013.11:g.32315482_32316529dup AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 30, 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:: RCV001283951.1

Allele description [Variation Report for NC_000013.11:g.32315482_32316529dup]

NC_000013.11:g.32315482_32316529dup

Genes:

BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
LOC106721785:BRCA2 promoter/silencer region [Gene]

Variant type:

Duplication

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NC_000013.11:g.32315482_32316529dup

HGVS:

NC_000013.11:g.32315482_32316529dup
NG_012772.3:g.5003_6050dup
NG_017006.2:g.3837_4884dup
LRG_293:g.5003_6050dup
NC_000013.10:g.32889619_32890666dup
NG_017006.1:g.428_1475dup

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
SCV001469471	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Uncertain significance (Jun 30, 2020)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 15548676, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001469471

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Uncertain significance
(Jun 30, 2020)

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

Significant contribution of germline BRCA2 rearrangements in male breast cancer families.

Tournier I, Paillerets BB, Sobol H, Stoppa-Lyonnet D, Lidereau R, Barrois M, Mazoyer S, Coulet F, Hardouin A, Chompret A, Lortholary A, Chappuis P, Bourdon V, Bonadona V, Maugard C, Gilbert B, Nogues C, Frébourg T, Tosi M.

Cancer Res. 2004 Nov 15;64(22):8143-7.

PubMed [citation]

PMID:: 15548676

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, SCV001469471.2

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

#	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 1, 2024

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