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NM_004333.6(BRAF):c.1190G>A (p.Gly397Asp) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 26, 2021
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:
RCV002275122.1

Allele description [Variation Report for NM_004333.6(BRAF):c.1190G>A (p.Gly397Asp)]

NM_004333.6(BRAF):c.1190G>A (p.Gly397Asp)

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.1190G>A (p.Gly397Asp)
HGVS:
  • NC_000007.14:g.140783145C>T
  • NG_007873.3:g.146620G>A
  • NM_001354609.2:c.1190G>A
  • NM_001374244.1:c.1310G>A
  • NM_001374258.1:c.1310G>A
  • NM_001378467.1:c.1199G>A
  • NM_001378468.1:c.1190G>A
  • NM_001378469.1:c.1178-54G>A
  • NM_001378470.1:c.1088G>A
  • NM_001378471.1:c.1141-62G>A
  • NM_001378472.1:c.1034G>A
  • NM_001378473.1:c.1034G>A
  • NM_001378474.1:c.1190G>A
  • NM_001378475.1:c.926G>A
  • NM_004333.6:c.1190G>AMANE SELECT
  • NP_001341538.1:p.Gly397Asp
  • NP_001361173.1:p.Gly437Asp
  • NP_001361187.1:p.Gly437Asp
  • NP_001365396.1:p.Gly400Asp
  • NP_001365397.1:p.Gly397Asp
  • NP_001365399.1:p.Gly363Asp
  • NP_001365401.1:p.Gly345Asp
  • NP_001365402.1:p.Gly345Asp
  • NP_001365403.1:p.Gly397Asp
  • NP_001365404.1:p.Gly309Asp
  • NP_004324.2:p.Gly397Asp
  • LRG_299t1:c.1190G>A
  • LRG_299:g.146620G>A
  • NC_000007.13:g.140482945C>T
  • NM_004333.4:c.1190G>A
  • NM_004333.5:c.1190G>A
Protein change:
G309D
Links:
dbSNP: rs1554400237
NCBI 1000 Genomes Browser:
rs1554400237
Molecular consequence:
  • NM_001378469.1:c.1178-54G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378471.1:c.1141-62G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354609.2:c.1190G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374244.1:c.1310G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374258.1:c.1310G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378467.1:c.1199G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378468.1:c.1190G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378470.1:c.1088G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378472.1:c.1034G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378473.1:c.1034G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378474.1:c.1190G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378475.1:c.926G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004333.6:c.1190G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiofaciocutaneous syndrome 1 (CFC1)
Synonyms:
Congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure
Identifiers:
MONDO: MONDO:0007265; MedGen: CN029449; Orphanet: 1340; OMIM: 115150
Name:
LEOPARD syndrome 3 (LPRD3)
Identifiers:
MONDO: MONDO:0013380; MedGen: C3150971; Orphanet: 500; OMIM: 613707
Name:
Noonan syndrome 7 (NS7)
Identifiers:
MONDO: MONDO:0013379; MedGen: C3150970; Orphanet: 648; OMIM: 613706

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002564182New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Sep 26, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV002564182.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024