NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) AND Cardiofaciocutaneous syndrome 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 16, 2024
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:: RCV004596077.1

Allele description [Variation Report for NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe)]

NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe)

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.1455G>T (p.Leu485Phe)

HGVS:

NC_000007.14:g.140778053C>A
NG_007873.3:g.151712G>T
NM_001354609.2:c.1455G>T
NM_001374244.1:c.1575G>T
NM_001374258.1:c.1575G>T
NM_001378467.1:c.1464G>T
NM_001378468.1:c.1455G>T
NM_001378469.1:c.1389G>T
NM_001378470.1:c.1353G>T
NM_001378471.1:c.1344G>T
NM_001378472.1:c.1299G>T
NM_001378473.1:c.1299G>T
NM_001378474.1:c.1455G>T
NM_001378475.1:c.1191G>T
NM_004333.6:c.1455G>TMANE SELECT
NP_001341538.1:p.Leu485Phe
NP_001361173.1:p.Leu525Phe
NP_001361187.1:p.Leu525Phe
NP_001365396.1:p.Leu488Phe
NP_001365397.1:p.Leu485Phe
NP_001365398.1:p.Leu463Phe
NP_001365399.1:p.Leu451Phe
NP_001365400.1:p.Leu448Phe
NP_001365401.1:p.Leu433Phe
NP_001365402.1:p.Leu433Phe
NP_001365403.1:p.Leu485Phe
NP_001365404.1:p.Leu397Phe
NP_004324.2:p.Leu485Phe
LRG_299t1:c.1455G>T
LRG_299:g.151712G>T
NC_000007.13:g.140477853C>A
NM_004333.4:c.1455G>T
NM_004333.6(BRAF):c.1455G>TMANE SELECT
P15056:p.Leu485Phe

Protein change:

L397F

Links:

UniProtKB: P15056#VAR_026115; dbSNP: rs180177036

NCBI 1000 Genomes Browser:

rs180177036

Molecular consequence:

NM_001354609.2:c.1455G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001374244.1:c.1575G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001374258.1:c.1575G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001378467.1:c.1464G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001378468.1:c.1455G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001378469.1:c.1389G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001378470.1:c.1353G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001378471.1:c.1344G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001378472.1:c.1299G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001378473.1:c.1299G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001378474.1:c.1455G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001378475.1:c.1191G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_004333.6:c.1455G>T - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005090984	Laboratory of Medical Genetics, National & Kapodistrian University of Athens	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 16, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005090984

Laboratory of Medical Genetics, National & Kapodistrian University of Athens

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 16, 2024)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical 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 Laboratory of Medical Genetics, National & Kapodistrian University of Athens, SCV005090984.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

PS1, PS4, PM1, PM2, PP3, PP5- The variant has been reported in ClinVar as Pathogenic by other laboratories (Variation ID: 177844). In silico prediction tools estimated that the variant could be damaging for the protein function/stracture. It is not present in population databases (gnomAD no frequency).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine