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NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu) AND Cardiofaciocutaneous syndrome 1

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Nov 1, 2016
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:
RCV000184039.1

Allele description [Variation Report for NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu)]

NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu)

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.1783T>C (p.Phe595Leu)
HGVS:
  • NC_000007.14:g.140753352A>G
  • NG_007873.3:g.176413T>C
  • NM_001354609.2:c.1783T>C
  • NM_001374244.1:c.1903T>C
  • NM_001374258.1:c.1903T>C
  • NM_001378467.1:c.1792T>C
  • NM_001378468.1:c.1783T>C
  • NM_001378469.1:c.1717T>C
  • NM_001378470.1:c.1681T>C
  • NM_001378471.1:c.1672T>C
  • NM_001378472.1:c.1627T>C
  • NM_001378473.1:c.1627T>C
  • NM_001378474.1:c.1783T>C
  • NM_001378475.1:c.1519T>C
  • NM_004333.6:c.1783T>CMANE SELECT
  • NP_001341538.1:p.Phe595Leu
  • NP_001361173.1:p.Phe635Leu
  • NP_001361187.1:p.Phe635Leu
  • NP_001365396.1:p.Phe598Leu
  • NP_001365397.1:p.Phe595Leu
  • NP_001365398.1:p.Phe573Leu
  • NP_001365399.1:p.Phe561Leu
  • NP_001365400.1:p.Phe558Leu
  • NP_001365401.1:p.Phe543Leu
  • NP_001365402.1:p.Phe543Leu
  • NP_001365403.1:p.Phe595Leu
  • NP_001365404.1:p.Phe507Leu
  • NP_004324.2:p.Phe595Leu
  • LRG_299t1:c.1783T>C
  • LRG_299:g.176413T>C
  • NC_000007.13:g.140453152A>G
  • NM_004333.4:c.1783T>C
  • P15056:p.Phe595Leu
Protein change:
F507L
Links:
UniProtKB: P15056#VAR_018625; dbSNP: rs794729219
NCBI 1000 Genomes Browser:
rs794729219
Molecular consequence:
  • NM_001354609.2:c.1783T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374244.1:c.1903T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374258.1:c.1903T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378467.1:c.1792T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378468.1:c.1783T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378469.1:c.1717T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378470.1:c.1681T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378471.1:c.1672T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378472.1:c.1627T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378473.1:c.1627T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378474.1:c.1783T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378475.1:c.1519T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004333.6:c.1783T>C - missense variant - [Sequence Ontology: SO:0001583]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000236570Mendelics
no assertion criteria provided
Pathogenic
(Nov 6, 2013) 		unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV000781087Center for Human Genetics, Inc, Center for Human Genetics, Inc
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Nov 1, 2016) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

Schulz AL, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, Hübner CA, Korenke GC, König R, Kress W, Krüger G, Meinecke P, Mücke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H, Spranger S, et al.

Clin Genet. 2008 Jan;73(1):62-70. Epub 2007 Nov 27.

PubMed [citation]
PMID:
18042262

Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

Rodriguez-Viciana P, Tetsu O, Tidyman WE, Estep AL, Conger BA, Cruz MS, McCormick F, Rauen KA.

Science. 2006 Mar 3;311(5765):1287-90. Epub 2006 Jan 26.

PubMed [citation]
PMID:
16439621
See all PubMed Citations (4)

Details of each submission

From Mendelics, SCV000236570.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

From Center for Human Genetics, Inc, Center for Human Genetics, Inc, SCV000781087.1

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

Last Updated: Sep 29, 2024