NM_000059.4(BRCA2):c.8850G>A (p.Lys2950=) AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 25, 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:: RCV000758964.5

Allele description [Variation Report for NM_000059.4(BRCA2):c.8850G>A (p.Lys2950=)]

NM_000059.4(BRCA2):c.8850G>A (p.Lys2950=)

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.8850G>A (p.Lys2950=)

Other names:

p.K2950K:AAG>AAA

HGVS:

NC_000013.11:g.32379412G>A
NG_012772.3:g.68933G>A
NM_000059.4:c.8850G>AMANE SELECT
NP_000050.2:p.Lys2950=
NP_000050.3:p.Lys2950=
LRG_293t1:c.8850G>A
LRG_293:g.68933G>A
LRG_293p1:p.Lys2950=
NC_000013.10:g.32953549G>A
NM_000059.3:c.8850G>A
p.K2950K

Links:

dbSNP: rs28897754

NCBI 1000 Genomes Browser:

rs28897754

Molecular consequence:

NM_000059.4:c.8850G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000887945	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Likely benign (Jan 25, 2023)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 20859677, 16616110, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000887945

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Likely benign
(Jan 25, 2023)

unknown

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families.

Gonzalez-Hormazabal P, Gutierrez-Enriquez S, Gaete D, Reyes JM, Peralta O, Waugh E, Gomez F, Margarit S, Bravo T, Blanco R, Diez O, Jara L.

Breast Cancer Res Treat. 2011 Apr;126(3):705-16. doi: 10.1007/s10549-010-1170-y. Epub 2010 Sep 22.

PubMed [citation]

PMID:: 20859677

BRCA1 and BRCA2 mutations in a South American population.

Jara L, Ampuero S, Santibáñez E, Seccia L, Rodríguez J, Bustamante M, Martínez V, Catenaccio A, Lay-Son G, Blanco R, Reyes JM.

Cancer Genet Cytogenet. 2006 Apr 1;166(1):36-45.

PubMed [citation]

PMID:: 16616110

See all PubMed Citations (3)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000887945.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 29, 2024

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Relating variation to medicine