NM_000059.4(BRCA2):c.478_480delinsCTT (p.Val160Leu) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 5, 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:: RCV000775820.4

Allele description [Variation Report for NM_000059.4(BRCA2):c.478_480delinsCTT (p.Val160Leu)]

NM_000059.4(BRCA2):c.478_480delinsCTT (p.Val160Leu)

Gene:

BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.478_480delinsCTT (p.Val160Leu)

HGVS:

NC_000013.11:g.32326244_32326246delinsCTT
NG_012772.3:g.15765_15767delinsCTT
NM_000059.4:c.478_480delinsCTTMANE SELECT
NP_000050.2:p.Val160Leu
NP_000050.3:p.Val160Leu
LRG_293t1:c.478_480delinsCTT
LRG_293:g.15765_15767delinsCTT
LRG_293p1:p.Val160Leu
NC_000013.10:g.32900381_32900383delinsCTT
NM_000059.3:c.478_480delGTAinsCTT
NM_000059.3:c.478_480delinsCTT

Protein change:

V160L

Links:

dbSNP: rs1566218945

NCBI 1000 Genomes Browser:

rs1566218945

Molecular consequence:

NM_000059.4:c.478_480delinsCTT - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Tryptophan-tRNA Ligase
Tryptophan-tRNA Ligase
An enzyme that activates tryptophan with its specific transfer RNA. EC 6.1.1.2.<br/>Year introduced: 1998(1975)

MeSH
Serine-tRNA Ligase
Serine-tRNA Ligase
An enzyme that activates serine with its specific transfer RNA. EC 6.1.1.11.<br/>Year introduced: 1998(1975)

MeSH
Profile neighbors for GEO Profiles (Select 83052768) (199)
GEO Profiles
Chromosome neighbors for GEO Profiles (Select 83057098) (20)
GEO Profiles
ELN elastin [Homo sapiens]
ELN elastin [Homo sapiens]
Gene ID:2006

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000910288	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Dec 5, 2023)	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

SCV000910288

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Dec 5, 2023)

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 Color Diagnostics, LLC DBA Color Health, SCV000910288.3

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

Description

This missense variant replaces valine with leucine at codon 160 of the BRCA2 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with BRCA2-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#	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 1, 2024

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