NM_000059.4(BRCA2):c.266C>T (p.Pro89Leu) AND not provided

Germline classification:: Uncertain significance (3 submissions)
Last evaluated:: Mar 23, 2023
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:: RCV000487155.4

Allele description [Variation Report for NM_000059.4(BRCA2):c.266C>T (p.Pro89Leu)]

NM_000059.4(BRCA2):c.266C>T (p.Pro89Leu)

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.266C>T (p.Pro89Leu)

HGVS:

NC_000013.11:g.32319275C>T
NG_012772.3:g.8796C>T
NG_017006.2:g.1089G>A
NM_000059.4:c.266C>TMANE SELECT
NP_000050.2:p.Pro89Leu
NP_000050.3:p.Pro89Leu
LRG_293t1:c.266C>T
LRG_293:g.8796C>T
LRG_293p1:p.Pro89Leu
NC_000013.10:g.32893412C>T
NM_000059.3:c.266C>T

Protein change:

P89L

Links:

dbSNP: rs748609599

NCBI 1000 Genomes Browser:

rs748609599

Molecular consequence:

NM_000059.4:c.266C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Mus musculus testis-specific serine kinase 3 (Tssk3), mRNA
Mus musculus testis-specific serine kinase 3 (Tssk3), mRNA
gi|54144643|ref|NM_080442.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000567911	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Mar 23, 2023)	germline	clinical testing	Citation Link,
SCV002034337	Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Uncertain significance	germline	clinical testing
SCV002036507	Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Uncertain significance	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000567911

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Mar 23, 2023)

germline

clinical testing

Citation Link,

SCV002034337

Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Uncertain significance

germline

clinical testing

SCV002036507

Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Uncertain significance

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000567911.5

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Also known as 494C>T; Observed in individuals with a personal and/or family history of breast, ovarian, or pancreatic cancer; however, has also been reported in healthy controls, as well as in an affected individual harboring a pathogenic variant in BRCA1 (Muller et al., 2011; Abulkhair et al., 2018; Mathias et al., 2019; Abu-Helalah et al., 2020; You et al., 2020; Dong et al., 2021; Dorling et al., 2021); This variant is associated with the following publications: (PMID: 32377563, 29884841, 31432501, 30199306, 30287823, 33067490, 32467295, 33471991, 34218100, 21939546, 32211327)

#	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		not provided	not provided	not provided	not provided

From Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute - VKGL Data-share Consensus, SCV002034337.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV002036507.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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