NM_000059.4(BRCA2):c.67+1G>T AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jun 17, 2021
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:: RCV000505843.11

Allele description [Variation Report for NM_000059.4(BRCA2):c.67+1G>T]

NM_000059.4(BRCA2):c.67+1G>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.67+1G>T

HGVS:

NC_000013.11:g.32316528G>T
NG_012772.3:g.6049G>T
NG_017006.2:g.3836C>A
NM_000059.4:c.67+1G>TMANE SELECT
NM_001406719.1:c.67+1G>T
NM_001406720.1:c.67+1G>T
NM_001406721.1:c.67+1G>T
NM_001406722.1:c.-303+861G>T
LRG_293t1:c.67+1G>T
LRG_293:g.6049G>T
NC_000013.10:g.32890665G>T
NM_000059.3:c.67+1G>T
U43746.1:n.295+1G>T

Nucleotide change:

IVS2+1G>T

Links:

Breast Cancer Information Core (BIC) (BRCA2): 295+1&base_change=G to T; dbSNP: rs81002796

NCBI 1000 Genomes Browser:

rs81002796

Molecular consequence:

NM_001406722.1:c.-303+861G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_000059.4:c.67+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406719.1:c.67+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406720.1:c.67+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406721.1:c.67+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000296749	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Jan 28, 2015)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 12938098, 22505045, 26467025, 26295337
SCV001762057	Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 17, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000296749

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Pathogenic
(Jan 28, 2015)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

SCV001762057

Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 17, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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	1	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany.

Meyer P, Voigtlaender T, Bartram CR, Klaes R.

Hum Mutat. 2003 Sep;22(3):259.

PubMed [citation]

PMID:: 12938098

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.

Houdayer C, Caux-Moncoutier V, Krieger S, Barrois M, Bonnet F, Bourdon V, Bronner M, Buisson M, Coulet F, Gaildrat P, Lefol C, Léone M, Mazoyer S, Muller D, Remenieras A, Révillion F, Rouleau E, Sokolowska J, Vert JP, Lidereau R, Soubrier F, Sobol H, et al.

Hum Mutat. 2012 Aug;33(8):1228-38. doi: 10.1002/humu.22101. Epub 2012 May 11.

PubMed [citation]

PMID:: 22505045

See all PubMed Citations (5)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000296749.3

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

#	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

From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV001762057.1

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

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

Last Updated: Jun 2, 2024

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