NM_000059.4(BRCA2):c.4137G>A (p.Gln1379=) AND not specified

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Nov 12, 2020
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000426931.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.4137G>A (p.Gln1379=)]

NM_000059.4(BRCA2):c.4137G>A (p.Gln1379=)

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.4137G>A (p.Gln1379=)

HGVS:

NC_000013.11:g.32338492G>A
NG_012772.3:g.28013G>A
NM_000059.4:c.4137G>AMANE SELECT
NP_000050.2:p.Gln1379=
NP_000050.3:p.Gln1379=
LRG_293t1:c.4137G>A
LRG_293:g.28013G>A
LRG_293p1:p.Gln1379=
NC_000013.10:g.32912629G>A
NM_000059.3:c.4137G>A
p.Gln1379Gln

Links:

dbSNP: rs768918982

NCBI 1000 Genomes Browser:

rs768918982

Molecular consequence:

NM_000059.4:c.4137G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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NP_004636 (0)
SRA
Mus musculus ski sarcoma viral oncogene homolog (avian), mRNA (cDNA clone IMAGE:...
Mus musculus ski sarcoma viral oncogene homolog (avian), mRNA (cDNA clone IMAGE:3493006), partial cds
gi|13278384|gb|BC004008.1|

Nucleotide
hypothetical protein LRAMOSA09892 [Lichtheimia ramosa]
hypothetical protein LRAMOSA09892 [Lichtheimia ramosa]
gi|671693801|emb|CDS08531.1|

Protein
hypothetical protein FRACYDRAFT_217021 [Fragilariopsis cylindrus CCMP1102]
hypothetical protein FRACYDRAFT_217021 [Fragilariopsis cylindrus CCMP1102]
gi|1072235307|gb|OEU20036.1||gnl|WG G|FRACYDRAFT_217021

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000600576	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Likely benign (Jul 11, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001448437	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Likely benign (Nov 12, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000600576

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Likely benign
(Jul 11, 2017)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001448437

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Likely benign
(Nov 12, 2020)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000600576.2

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

#	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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001448437.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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