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:
current
Accession:
RCV000015011.32

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

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

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_001374258.1(BRAF):c.1621G>A (p.Glu541Lys)
HGVS:
  • 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
Links:
UniProtKB: P15056#VAR_026118; OMIM: 164757.0017; dbSNP: rs180177038
NCBI 1000 Genomes Browser:
rs180177038
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]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
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

Citations

PubMed

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]
PMID:
3265306

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]
PMID:
16474404

Details of each submission

From OMIM, SCV000035267.4

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

Description

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.

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

Last Updated: Jul 7, 2021

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