NM_004333.6(BRAF):c.1799_1801del (p.Val600_Lys601delinsGlu) AND not provided

Clinical significance:Uncertain significance

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001354719.1

Allele description [Variation Report for NM_004333.6(BRAF):c.1799_1801del (p.Val600_Lys601delinsGlu)]

NM_004333.6(BRAF):c.1799_1801del (p.Val600_Lys601delinsGlu)

Gene:
BRAF:B-Raf proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7q34
Genomic location:
Preferred name:
NM_004333.6(BRAF):c.1799_1801del (p.Val600_Lys601delinsGlu)
HGVS:
  • NC_000007.14:g.140753334_140753336del
  • NG_007873.3:g.176429_176431del
  • NM_001354609.2:c.1799_1801del
  • NM_004333.6:c.1799_1801del
  • NP_001341538.1:p.Val600_Lys601delinsGlu
  • NP_004324.2:p.Val600_Lys601delinsGlu
  • LRG_299t1:c.1799_1801del
  • LRG_299:g.176429_176431del
  • NC_000007.13:g.140453134_140453136del
  • NC_000007.13:g.140453134_140453136delTCA
  • NM_004333.4:c.1799_1801delTGA
  • c.1799_1801delTGA
Links:
dbSNP: rs397516897
NCBI 1000 Genomes Browser:
rs397516897
Molecular consequence:
  • NM_001354609.2:c.1799_1801del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_004333.6:c.1799_1801del - inframe_indel - [Sequence Ontology: SO:0001820]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001549403Department of Pathology and Laboratory Medicine,Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria providedUncertain significanceunknownclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Department of Pathology and Laboratory Medicine,Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001549403.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 7, 2021

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