NM_000059.3(BRCA2):c.1755_1759delGAAAA (p.Lys585Asnfs) AND Hereditary cancer-predisposing syndrome

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

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Oct 8, 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:: RCV000131055.3

Allele description

NM_000059.3(BRCA2):c.1755_1759delGAAAA (p.Lys585Asnfs)

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.1755_1759delGAAAA (p.Lys585Asnfs)

HGVS:

NC_000013.11:g.32333233_32333237delGAAAA
NG_012772.3:g.22754_22758delGAAAA
NM_000059.3:c.1755_1759delGAAAA
NP_000050.2:p.Lys585Asnfs
LRG_293t1:c.1755_1759delGAAAA
LRG_293:g.22754_22758delGAAAA
LRG_293p1:p.Lys585Asnfs
NC_000013.10:g.32907370_32907374delGAAAA
NM_000059.3:c.1755_1759del
U43746.1:n.1983_1987delGAAAA
p.K585NFS*3
p.K585NfsX3
p.Lys585Asnfs*3
p.Lys585AsnfsX3

Nucleotide change:

1983del5

Links:

Breast Cancer Information Core (BIC) (BRCA2): 1983&base_change=del GAAAA; dbSNP: rs80359302

NCBI 1000 Genomes Browser:

rs80359302

Molecular consequence:

NM_000059.3:c.1755_1759delGAAAA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:: MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000185985	Ambry Genetics,	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (9/4/14))	Pathogenic (Jul 2, 2014)	germline	clinical testing	Citation Link,
SCV000292147	Color Genomics, Inc.	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 8, 2015)	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

SCV000185985

Ambry Genetics,

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (9/4/14))

Pathogenic
(Jul 2, 2014)

germline

clinical testing

Citation Link,

SCV000292147

Color Genomics, Inc.

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 8, 2015)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

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 Ambry Genetics,, SCV000185985.2

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

#	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 Color Genomics, Inc., SCV000292147.1

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

Last Updated: Aug 29, 2016

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