NM_001374258.1(BRAF):c.1516G>A (p.Gly506Arg) AND Neoplasm of ovary

Clinical significance:Likely pathogenic (Last evaluated: Jul 14, 2015)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_001374258.1(BRAF):c.1516G>A (p.Gly506Arg)]

NM_001374258.1(BRAF):c.1516G>A (p.Gly506Arg)

BRAF:B-Raf proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_001374258.1(BRAF):c.1516G>A (p.Gly506Arg)
  • NC_000007.14:g.140781612C>T
  • NG_007873.3:g.148153G>A
  • NM_001354609.2:c.1396G>A
  • NM_001374244.1:c.1516G>A
  • NM_001374258.1:c.1516G>AMANE SELECT
  • NM_001378467.1:c.1405G>A
  • NM_001378468.1:c.1396G>A
  • NM_001378469.1:c.1330G>A
  • NM_001378470.1:c.1294G>A
  • NM_001378471.1:c.1285G>A
  • NM_001378472.1:c.1240G>A
  • NM_001378473.1:c.1240G>A
  • NM_001378474.1:c.1396G>A
  • NM_001378475.1:c.1132G>A
  • NM_004333.6:c.1396G>A
  • NP_001341538.1:p.Gly466Arg
  • NP_001361173.1:p.Gly506Arg
  • NP_001361187.1:p.Gly506Arg
  • NP_001365396.1:p.Gly469Arg
  • NP_001365397.1:p.Gly466Arg
  • NP_001365398.1:p.Gly444Arg
  • NP_001365399.1:p.Gly432Arg
  • NP_001365400.1:p.Gly429Arg
  • NP_001365401.1:p.Gly414Arg
  • NP_001365402.1:p.Gly414Arg
  • NP_001365403.1:p.Gly466Arg
  • NP_001365404.1:p.Gly378Arg
  • NP_004324.2:p.Gly466Arg
  • LRG_299t1:c.1396G>A
  • LRG_299:g.148153G>A
  • NC_000007.13:g.140481412C>T
  • NM_004333.4:c.1396G>A
  • c.1396G>A
Protein change:
dbSNP: rs121913353
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001354609.2:c.1396G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374244.1:c.1516G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374258.1:c.1516G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378467.1:c.1405G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378468.1:c.1396G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378469.1:c.1330G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378470.1:c.1294G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378471.1:c.1285G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378472.1:c.1240G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378473.1:c.1240G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378474.1:c.1396G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378475.1:c.1132G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004333.6:c.1396G>A - missense variant - [Sequence Ontology: SO:0001583]


Neoplasm of ovary
Ovarian tumor; OVARIAN CANCER, SOMATIC; Ovarian neoplasm; See all synonyms [MedGen]
MONDO: MONDO:0021068; MeSH: D010051; MedGen: C0919267; OMIM: 167000; Human Phenotype Ontology: HP:0100615

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000505613Database of Curated Mutations (DoCM)no assertion criteria providedLikely pathogenic
(Jul 14, 2015)
somaticliterature only

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedliterature only



Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

MacConaill LE, Garcia E, Shivdasani P, Ducar M, Adusumilli R, Breneiser M, Byrne M, Chung L, Conneely J, Crosby L, Garraway LA, Gong X, Hahn WC, Hatton C, Kantoff PW, Kluk M, Kuo F, Jia Y, Joshi R, Longtine J, Manning A, Palescandolo E, et al.

J Mol Diagn. 2014 Nov;16(6):660-72. doi: 10.1016/j.jmoldx.2014.06.004. Epub 2014 Aug 23.

PubMed [citation]

Details of each submission

From Database of Curated Mutations (DoCM), SCV000505613.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2021

Support Center