NM_000059.4(BRCA2):c.3622T>A (p.Leu1208Ile) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 20, 2004
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:: RCV000113198.10

Allele description [Variation Report for NM_000059.4(BRCA2):c.3622T>A (p.Leu1208Ile)]

NM_000059.4(BRCA2):c.3622T>A (p.Leu1208Ile)

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.3622T>A (p.Leu1208Ile)

HGVS:

NC_000013.11:g.32337977T>A
NG_012772.3:g.27498T>A
NM_000059.4:c.3622T>AMANE SELECT
NP_000050.2:p.Leu1208Ile
NP_000050.3:p.Leu1208Ile
LRG_293t1:c.3622T>A
LRG_293:g.27498T>A
LRG_293p1:p.Leu1208Ile
NC_000013.10:g.32912114T>A
NM_000059.3:c.3622T>A
U43746.1:n.3850T>A

Protein change:

L1208I

Links:

dbSNP: rs80358608

NCBI 1000 Genomes Browser:

rs80358608

Molecular consequence:

NM_000059.4:c.3622T>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2)
Synonyms:: Breast-ovarian cancer, familial 2
Identifiers:: MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000146267	Breast Cancer Information Core (BIC) (BRCA2)	no assertion criteria provided	Uncertain significance (Feb 20, 2004)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000146267

Breast Cancer Information Core (BIC) (BRCA2)

no assertion criteria provided

Uncertain significance
(Feb 20, 2004)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Western European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146267.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Western European	1	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	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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