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NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) AND Cerebral arteriovenous malformation

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000860020.9

Allele description [Variation Report for NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)]

NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)

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.1799T>A (p.Val600Glu)
HGVS:
  • NC_000007.14:g.140753336A>T
  • NG_007873.3:g.176429T>A
  • NM_001354609.2:c.1799T>A
  • NM_001374244.1:c.1919T>A
  • NM_001374258.1:c.1919T>A
  • NM_001378467.1:c.1808T>A
  • NM_001378468.1:c.1799T>A
  • NM_001378469.1:c.1733T>A
  • NM_001378470.1:c.1697T>A
  • NM_001378471.1:c.1688T>A
  • NM_001378472.1:c.1643T>A
  • NM_001378473.1:c.1643T>A
  • NM_001378474.1:c.1799T>A
  • NM_001378475.1:c.1535T>A
  • NM_004333.6:c.1799T>AMANE SELECT
  • NP_001341538.1:p.Val600Glu
  • NP_001361173.1:p.Val640Glu
  • NP_001361187.1:p.Val640Glu
  • NP_001365396.1:p.Val603Glu
  • NP_001365397.1:p.Val600Glu
  • NP_001365398.1:p.Val578Glu
  • NP_001365399.1:p.Val566Glu
  • NP_001365400.1:p.Val563Glu
  • NP_001365401.1:p.Val548Glu
  • NP_001365402.1:p.Val548Glu
  • NP_001365403.1:p.Val600Glu
  • NP_001365404.1:p.Val512Glu
  • NP_004324.2:p.Val600Glu
  • NP_004324.2:p.Val600Glu
  • LRG_299t1:c.1799T>A
  • LRG_299:g.176429T>A
  • LRG_299p1:p.Val600Glu
  • NC_000007.12:g.140099605A>T
  • NC_000007.13:g.140453136A>T
  • NM_004333.4:c.1799T>A
  • NM_004333:c.1799T>A
  • P15056:p.Val600Glu
  • c.1799T>A
  • p.V600E
Protein change:
V512E; VAL600GLU
Links:
UniProtKB: P15056#VAR_018629; OMIM: 164757.0001; dbSNP: rs113488022
NCBI 1000 Genomes Browser:
rs113488022
Molecular consequence:
  • NM_001354609.2:c.1799T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374244.1:c.1919T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374258.1:c.1919T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378467.1:c.1808T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378468.1:c.1799T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378469.1:c.1733T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378470.1:c.1697T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378471.1:c.1688T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378472.1:c.1643T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378473.1:c.1643T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378474.1:c.1799T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378475.1:c.1535T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004333.6:c.1799T>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
  • Increased function
  • gain_of_function_variant [Sequence Ontology: SO:0002053]

Condition(s)

Name:
Cerebral arteriovenous malformation (BAVM)
Synonyms:
CEREBRAL ARTERIOVENOUS MALFORMATIONS; Arteriovenous malformations of the brain
Identifiers:
MONDO: MONDO:0007154; MedGen: C0917804; Orphanet: 46724; OMIM: 108010; Human Phenotype Ontology: HP:0002408

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000992587Arin Greene Laboratory, Boston Children's Hospital, Harvard Medical School
no assertion criteria provided
Pathogenicsomaticresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyes1not providednot providednot providednot providedresearch

Citations

PubMed

Somatic mutations in intracranial arteriovenous malformations.

Goss JA, Huang AY, Smith E, Konczyk DJ, Smits PJ, Sudduth CL, Stapleton C, Patel A, Alexandrescu S, Warman ML, Greene AK.

PLoS One. 2019;14(12):e0226852. doi: 10.1371/journal.pone.0226852.

PubMed [citation]
PMID:
31891627
PMCID:
PMC6938308

Details of each submission

From Arin Greene Laboratory, Boston Children's Hospital, Harvard Medical School, SCV000992587.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 24, 2024