NM_000059.4(BRCA2):c.8465_8472del (p.Ile2822fs) AND Breast cancer, susceptibility to

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 25, 2018
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:: RCV000656477.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.8465_8472del (p.Ile2822fs)]

NM_000059.4(BRCA2):c.8465_8472del (p.Ile2822fs)

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.8465_8472del (p.Ile2822fs)

HGVS:

NC_000013.11:g.32370535_32370542del
NG_012772.3:g.60056_60063del
NM_000059.4:c.8465_8472delMANE SELECT
NM_000059.4:c.8465_8472delTTCAAAGA
NP_000050.3:p.Ile2822fs
LRG_293:g.60056_60063del
NC_000013.10:g.32944672_32944679del
NM_000059.3:c.8464_8471del

Protein change:

I2822fs

Links:

dbSNP: rs1555287661

NCBI 1000 Genomes Browser:

rs1555287661

Molecular consequence:

NM_000059.4:c.8465_8472del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Breast cancer, susceptibility to
Identifiers:: MedGen: C3469522

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000778347	Cancer Molecular Diagnostics Core, Tianjin Medical University Cancer Institute and Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 25, 2018)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000778347

Cancer Molecular Diagnostics Core, Tianjin Medical University Cancer Institute and Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 25, 2018)

germline

research

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
Chinese	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

Details of each submission

From Cancer Molecular Diagnostics Core, Tianjin Medical University Cancer Institute and Hospital, SCV000778347.1

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

#	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: Oct 26, 2024

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