NM_000059.4(BRCA2):c.240A>G (p.Ile80Met) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 6, 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:: RCV001283918.5

Allele description [Variation Report for NM_000059.4(BRCA2):c.240A>G (p.Ile80Met)]

NM_000059.4(BRCA2):c.240A>G (p.Ile80Met)

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.240A>G (p.Ile80Met)

HGVS:

NC_000013.11:g.32319249A>G
NG_012772.3:g.8770A>G
NG_017006.2:g.1115T>C
NM_000059.4:c.240A>GMANE SELECT
NP_000050.2:p.Ile80Met
NP_000050.3:p.Ile80Met
LRG_293t1:c.240A>G
LRG_293:g.8770A>G
LRG_293p1:p.Ile80Met
NC_000013.10:g.32893386A>G
NM_000059.3:c.240A>G
U43746.1:n.468A>G
p.I80M

Protein change:

I80M

Links:

dbSNP: rs80358505

NCBI 1000 Genomes Browser:

rs80358505

Molecular consequence:

NM_000059.4:c.240A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Chain C, Protein Rep68
Chain C, Protein Rep68
gi|1951686475|pdb|7JSE|C

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001772075	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jun 6, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001772075

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jun 6, 2023)

germline

clinical testing

Citation Link

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, SCV001772075.2

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

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Not observed in large population cohorts (gnomAD); Reported in 1/60,466 breast cancer cases and in 1/53,461 controls (Dorling et al., 2021); Also known as 468A>G; This variant is associated with the following publications: (PMID: 32641407, 31131967, 10923033, 33471991)

#	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: Sep 29, 2024

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