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NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 8, 2014
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:
RCV000414915.2

Allele description [Variation Report for NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly)]

NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly)

Gene:
BRAF:B-Raf proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q34
Genomic location:
Preferred name:
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly)
Other names:
p.E501G:GAA>GGA
HGVS:
  • NC_000007.14:g.140778006T>C
  • NG_007873.3:g.151759A>G
  • NM_001354609.2:c.1502A>G
  • NM_001374244.1:c.1622A>G
  • NM_001374258.1:c.1622A>G
  • NM_001378467.1:c.1511A>G
  • NM_001378468.1:c.1502A>G
  • NM_001378469.1:c.1436A>G
  • NM_001378470.1:c.1400A>G
  • NM_001378471.1:c.1391A>G
  • NM_001378472.1:c.1346A>G
  • NM_001378473.1:c.1346A>G
  • NM_001378474.1:c.1502A>G
  • NM_001378475.1:c.1238A>G
  • NM_004333.6:c.1502A>GMANE SELECT
  • NP_001341538.1:p.Glu501Gly
  • NP_001361173.1:p.Glu541Gly
  • NP_001361187.1:p.Glu541Gly
  • NP_001365396.1:p.Glu504Gly
  • NP_001365397.1:p.Glu501Gly
  • NP_001365398.1:p.Glu479Gly
  • NP_001365399.1:p.Glu467Gly
  • NP_001365400.1:p.Glu464Gly
  • NP_001365401.1:p.Glu449Gly
  • NP_001365402.1:p.Glu449Gly
  • NP_001365403.1:p.Glu501Gly
  • NP_001365404.1:p.Glu413Gly
  • NP_004324.2:p.Glu501Gly
  • LRG_299t1:c.1502A>G
  • LRG_299:g.151759A>G
  • NC_000007.13:g.140477806T>C
  • NM_004333.4:c.1502A>G
  • P15056:p.Glu501Gly
  • c.1502A>G
Protein change:
E413G; GLU501GLY
Links:
UniProtKB: P15056#VAR_026117; OMIM: 164757.0018; dbSNP: rs180177039
NCBI 1000 Genomes Browser:
rs180177039
Molecular consequence:
  • NM_001354609.2:c.1502A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374244.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374258.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378467.1:c.1511A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378468.1:c.1502A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378469.1:c.1436A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378470.1:c.1400A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378471.1:c.1391A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378472.1:c.1346A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378473.1:c.1346A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378474.1:c.1502A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378475.1:c.1238A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004333.6:c.1502A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pulmonic stenosis
Synonyms:
Pulmonic stenosis (disease)
Identifiers:
MONDO: MONDO:0009938; MedGen: C1956257; Orphanet: 3189; OMIM: 265500; Human Phenotype Ontology: HP:0001642
Name:
Webbed neck
Identifiers:
MedGen: C0221217; Human Phenotype Ontology: HP:0000465
Name:
Downslanted palpebral fissures
Identifiers:
MedGen: C0423110; Human Phenotype Ontology: HP:0000494
Name:
Premature birth
Identifiers:
MedGen: C0151526; Human Phenotype Ontology: HP:0001622
Name:
Wide intermamillary distance
Identifiers:
MedGen: C1827524; Human Phenotype Ontology: HP:0006610
Name:
High forehead
Identifiers:
MedGen: C0239676; Human Phenotype Ontology: HP:0000348
Name:
Low-set, posteriorly rotated ears
Identifiers:
MedGen: C1857486
Name:
Ventricular hypertrophy
Identifiers:
MedGen: C0340279; Human Phenotype Ontology: HP:0001714
Name:
Neonatal respiratory distress
Identifiers:
MedGen: C4281993; Human Phenotype Ontology: HP:0002643
Name:
Ventricular septal defect
Identifiers:
MONDO: MONDO:0002070; MedGen: C0018818; OMIM: PS614429; Human Phenotype Ontology: HP:0001629

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000492993Centre for Mendelian Genomics, University Medical Centre Ljubljana
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Oct 8, 2014) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000492993.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024