NM_000059.4(BRCA2):c.3000T>A (p.Ile1000=) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Likely benign (1 submission)
Last evaluated:: Nov 6, 2014
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000122906.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.3000T>A (p.Ile1000=)]

NM_000059.4(BRCA2):c.3000T>A (p.Ile1000=)

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.3000T>A (p.Ile1000=)

HGVS:

NC_000013.11:g.32337355T>A
NG_012772.3:g.26876T>A
NM_000059.4:c.3000T>AMANE SELECT
NP_000050.2:p.Ile1000=
NP_000050.3:p.Ile1000=
LRG_293t1:c.3000T>A
LRG_293:g.26876T>A
LRG_293p1:p.Ile1000=
NC_000013.10:g.32911492T>A
NM_000059.3:c.3000T>A
p.I1000I

Links:

dbSNP: rs587780649

NCBI 1000 Genomes Browser:

rs587780649

Molecular consequence:

NM_000059.4:c.3000T>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Hereditary breast ovarian cancer syndrome
Synonyms:: Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000166164	Labcorp Genetics (formerly Invitae), Labcorp	no assertion criteria provided	Likely benign (Nov 6, 2014)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000166164

Labcorp Genetics (formerly Invitae), Labcorp

no assertion criteria provided

Likely benign
(Nov 6, 2014)

germline

clinical testing

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

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000166164.2

#	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

Last Updated: Sep 29, 2024

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