NM_000059.4(BRCA2):c.67+1G>C AND Breast neoplasm

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 2015
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:: RCV000240786.9

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

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

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>C

HGVS:

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

Links:

dbSNP: rs81002796

NCBI 1000 Genomes Browser:

rs81002796

Molecular consequence:

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

Condition(s)

Name:: Breast neoplasm
Synonyms:: Neoplasm of breast; Breast tumor; Neoplasm of the breast; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0021100; MeSH: D001943; MedGen: C1458155; Human Phenotype Ontology: HP:0100013

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000265920	Laboratory of Molecular Diagnosis of Cancer, West China Hospital, Sichuan University See additional submitters Asia and Emerging Markets iMed, AstraZeneca	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 1, 2015)	germline	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 27257965

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000265920

Laboratory of Molecular Diagnosis of Cancer, West China Hospital, Sichuan University

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 1, 2015)

germline

research

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	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients.

Zhong X, Dong Z, Dong H, Li J, Peng Z, Deng L, Zhu X, Sun Y, Lu X, Shen F, Su X, Zhang L, Gu Y, Zheng H.

PLoS One. 2016;11(6):e0156789. doi: 10.1371/journal.pone.0156789.

PubMed [citation]

PMID:: 27257965
PMCID:: PMC4892623

Details of each submission

From Laboratory of Molecular Diagnosis of Cancer, West China Hospital, Sichuan University, SCV000265920.1

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

#	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		1	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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