NM_000059.3(BRCA2):c.1813delA (p.Ile605Tyrfs) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Aug 21, 2015
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000043896.6

Allele description

NM_000059.3(BRCA2):c.1813delA (p.Ile605Tyrfs)

Gene:

BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.3(BRCA2):c.1813delA (p.Ile605Tyrfs)

Other names:

2034delA; 2041_2042delA

HGVS:

NC_000013.11:g.32333291delA
NG_012772.3:g.22812delA
NM_000059.3:c.1813delA
NP_000050.2:p.Ile605Tyrfs
LRG_293t1:c.1813del
LRG_293:g.22812del
LRG_293p1:p.Ile605Tyrfs
NC_000013.10:g.32907428delA
NM_000059.3:c.1813del
U43746.1:n.2034delA
U43746.1:n.2041delA
p.I605YFS*9
p.I605YfsX9
p.Ile605Tyrfs*9

Nucleotide change:

2041delA

Links:

Breast Cancer Information Core (BIC) (BRCA2): 2034&base_change=del A; Breast Cancer Information Core (BIC) (BRCA2): 2041&base_change=del A; dbSNP: rs80359306; dbSNP: rs80359307

Molecular consequence:

NM_000059.3:c.1813delA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000210717	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (May 18, 2015)	germline	clinical testing	Citation Link,
SCV000296624	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest pathogenicity assessment criteria)	Pathogenic (Aug 21, 2015)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 26467025, 26295337

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000210717

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(May 18, 2015)

germline

clinical testing

Citation Link,

SCV000296624

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest pathogenicity assessment criteria)

Pathogenic
(Aug 21, 2015)

germline

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	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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

Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory.

Strom CM, Rivera S, Elzinga C, Angeloni T, Rosenthal SH, Goos-Root D, Siaw M, Platt J, Braastadt C, Cheng L, Ross D, Sun W.

PLoS One. 2015;10(8):e0136419. doi: 10.1371/journal.pone.0136419.

PubMed [citation]

PMID:: 26295337
PMCID:: PMC4546651

Details of each submission

From GeneDx, SCV000210717.9

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This deletion of one nucleotide is denoted BRCA2 c.1813delA at the cDNA level and p.Ile605TyrfsX9 (I605YfsX9) at the protein level. This deletion is also known BRCA2 2041delA using alternate nomenclature. The normal sequence, with the base that is deleted in braces, is GAAAAAAA[A]TACC. The deletion causes a frameshift, which changes an Isoleucine to a Tyrosine at codon 605, and creates a premature stop codon at position 9 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA2 c.1813delA has been reported in association with breast and/or ovarian cancer (Bergthorsson 2001, Spearman 2008, Sugano 2008). we consider this variant to be pathogenic.

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000296624.3

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 31, 2019

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