NM_000059.4(BRCA2):c.136C>A (p.Pro46Thr) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 4, 2019
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:: RCV001011205.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.136C>A (p.Pro46Thr)]

NM_000059.4(BRCA2):c.136C>A (p.Pro46Thr)

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.136C>A (p.Pro46Thr)

HGVS:

NC_000013.11:g.32319145C>A
NG_012772.3:g.8666C>A
NG_017006.2:g.1219G>T
NM_000059.4:c.136C>AMANE SELECT
NP_000050.3:p.Pro46Thr
LRG_293t1:c.136C>A
LRG_293:g.8666C>A
NC_000013.10:g.32893282C>A
NM_000059.3:c.136C>A

Protein change:

P46T

Links:

dbSNP: rs80358425

NCBI 1000 Genomes Browser:

rs80358425

Molecular consequence:

NM_000059.4:c.136C>A - 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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ALG11 [Hemicordylus capensis]
ALG11 [Hemicordylus capensis]
Gene ID:128340199

Gene
LOC18444395 [Amborella trichopoda]
LOC18444395 [Amborella trichopoda]
Gene ID:18444395

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001171501	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 4, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001171501

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 4, 2019)

germline

clinical testing

Citation Link

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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 Ambry Genetics, SCV001171501.4

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

Description

The p.P46T variant (also known as c.136C>A), located in coding exon 2 of the BRCA2 gene, results from a C to A substitution at nucleotide position 136. The proline at codon 46 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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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