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NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 18, 2017
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:
RCV000515291.2

Allele description [Variation Report for NM_004333.6(BRAF):c.735A>C (p.Leu245Phe)]

NM_004333.6(BRAF):c.735A>C (p.Leu245Phe)

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.735A>C (p.Leu245Phe)
Other names:
p.L245F:TTA>TTC; NM_004333.4(BRAF):c.735A>C
HGVS:
  • NC_000007.14:g.140801537T>G
  • NG_007873.3:g.128228A>C
  • NM_001354609.2:c.735A>C
  • NM_001374244.1:c.735A>C
  • NM_001374258.1:c.735A>C
  • NM_001378467.1:c.744A>C
  • NM_001378468.1:c.735A>C
  • NM_001378469.1:c.735A>C
  • NM_001378470.1:c.633A>C
  • NM_001378471.1:c.735A>C
  • NM_001378472.1:c.579A>C
  • NM_001378473.1:c.579A>C
  • NM_001378474.1:c.735A>C
  • NM_001378475.1:c.471A>C
  • NM_004333.6:c.735A>CMANE SELECT
  • NP_001341538.1:p.Leu245Phe
  • NP_001361173.1:p.Leu245Phe
  • NP_001361187.1:p.Leu245Phe
  • NP_001365396.1:p.Leu248Phe
  • NP_001365397.1:p.Leu245Phe
  • NP_001365398.1:p.Leu245Phe
  • NP_001365399.1:p.Leu211Phe
  • NP_001365400.1:p.Leu245Phe
  • NP_001365401.1:p.Leu193Phe
  • NP_001365402.1:p.Leu193Phe
  • NP_001365403.1:p.Leu245Phe
  • NP_001365404.1:p.Leu157Phe
  • NP_004324.2:p.Leu245Phe
  • LRG_299t1:c.735A>C
  • LRG_299:g.128228A>C
  • NC_000007.13:g.140501337T>G
  • NM_004333.4:c.735A>C
  • P15056:p.Leu245Phe
  • c.735A>C
Protein change:
L157F; LEU245PHE
Links:
UniProtKB: P15056#VAR_058623; OMIM: 164757.0027; dbSNP: rs397507466
NCBI 1000 Genomes Browser:
rs397507466
Molecular consequence:
  • NM_001354609.2:c.735A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374244.1:c.735A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374258.1:c.735A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378467.1:c.744A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378468.1:c.735A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378469.1:c.735A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378470.1:c.633A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378471.1:c.735A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378472.1:c.579A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378473.1:c.579A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378474.1:c.735A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378475.1:c.471A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004333.6:c.735A>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
Name:
Lung carcinoma
Identifiers:
MONDO: MONDO:0005138; MedGen: C0684249
Name:
Noonan syndrome 1 (NS1)
Synonyms:
Turner Syndrome, Male; Turner phenotype with normal karyotype; Female pseudo-Turner syndrome
Identifiers:
MONDO: MONDO:0008104; MedGen: C4551602; Orphanet: 648; OMIM: 163950
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
SCV000611176Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(May 18, 2017) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Fulgent Genetics, Fulgent Genetics, SCV000611176.1

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

Last Updated: Sep 29, 2024