NM_001374258.1(BRAF):c.1621G>A (p.Glu541Lys) AND Cardiofaciocutaneous syndrome 1

Clinical significance:Pathogenic (Last evaluated: Mar 1, 2006)

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_001374258.1(BRAF):c.1621G>A (p.Glu541Lys)]

NM_001374258.1(BRAF):c.1621G>A (p.Glu541Lys)

BRAF:B-Raf proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_001374258.1(BRAF):c.1621G>A (p.Glu541Lys)
  • NC_000007.14:g.140778007C>T
  • NG_007873.3:g.151758G>A
  • NM_001354609.2:c.1501G>A
  • NM_001374244.1:c.1621G>A
  • NM_001374258.1:c.1621G>AMANE SELECT
  • NM_001378467.1:c.1510G>A
  • NM_001378468.1:c.1501G>A
  • NM_001378469.1:c.1435G>A
  • NM_001378470.1:c.1399G>A
  • NM_001378471.1:c.1390G>A
  • NM_001378472.1:c.1345G>A
  • NM_001378473.1:c.1345G>A
  • NM_001378474.1:c.1501G>A
  • NM_001378475.1:c.1237G>A
  • NM_004333.6:c.1501G>A
  • NP_001341538.1:p.Glu501Lys
  • NP_001361173.1:p.Glu541Lys
  • NP_001361187.1:p.Glu541Lys
  • NP_001365396.1:p.Glu504Lys
  • NP_001365397.1:p.Glu501Lys
  • NP_001365398.1:p.Glu479Lys
  • NP_001365399.1:p.Glu467Lys
  • NP_001365400.1:p.Glu464Lys
  • NP_001365401.1:p.Glu449Lys
  • NP_001365402.1:p.Glu449Lys
  • NP_001365403.1:p.Glu501Lys
  • NP_001365404.1:p.Glu413Lys
  • NP_004324.2:p.Glu501Lys
  • LRG_299t1:c.1501G>A
  • LRG_299:g.151758G>A
  • NC_000007.13:g.140477807C>T
  • NM_004333.4:c.1501G>A
  • P15056:p.Glu501Lys
  • p.Glu501Gln
Protein change:
E413K; GLU501LYS
UniProtKB: P15056#VAR_026118; OMIM: 164757.0017; dbSNP: rs180177038
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001354609.2:c.1501G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374244.1:c.1621G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374258.1:c.1621G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378467.1:c.1510G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378468.1:c.1501G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378469.1:c.1435G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378470.1:c.1399G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378471.1:c.1390G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378472.1:c.1345G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378473.1:c.1345G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378474.1:c.1501G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378475.1:c.1237G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004333.6:c.1501G>A - missense variant - [Sequence Ontology: SO:0001583]


Cardiofaciocutaneous syndrome 1 (CFC1)
Congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure
MONDO: MONDO:0007265; MedGen: CN029449; Orphanet: 1340; OMIM: 115150

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000035267OMIMno assertion criteria providedPathogenic
(Mar 1, 2006)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only



CFC syndrome: a syndrome distinct from Noonan syndrome.

Verloes A, Le Merrer M, Soyeur D, Kaplan J, Pangalos C, Rigo J, Briard ML.

Ann Genet. 1988;31(4):230-4.

PubMed [citation]

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.

Niihori T, Aoki Y, Narumi Y, Neri G, Cavé H, Verloes A, Okamoto N, Hennekam RC, Gillessen-Kaesbach G, Wieczorek D, Kavamura MI, Kurosawa K, Ohashi H, Wilson L, Heron D, Bonneau D, Corona G, Kaname T, Naritomi K, Baumann C, Matsumoto N, Kato K, et al.

Nat Genet. 2006 Mar;38(3):294-6. Epub 2006 Feb 12.

PubMed [citation]

Details of each submission

From OMIM, SCV000035267.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)


In a patient with cardiofaciocutaneous syndrome (CFC1; 115150), who was previously reported by Verloes et al. (1988), Niihori et al. (2006) found a heterozygous 1501G-A transition in exon 12 of the BRAF gene, predicting a glu501-to-lys (E501K) amino acid change.

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2021

Support Center