NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys) AND Cardio-facio-cutaneous syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 24, 2011
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:
RCV000037929.5

Allele description [Variation Report for NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys)]

NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys)

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.1743T>A (p.Asn581Lys)
HGVS:
  • NC_000007.14:g.140753392A>T
  • NG_007873.3:g.176373T>A
  • NM_001354609.2:c.1743T>A
  • NM_001374244.1:c.1863T>A
  • NM_001374258.1:c.1863T>A
  • NM_001378467.1:c.1752T>A
  • NM_001378468.1:c.1743T>A
  • NM_001378469.1:c.1677T>A
  • NM_001378470.1:c.1641T>A
  • NM_001378471.1:c.1632T>A
  • NM_001378472.1:c.1587T>A
  • NM_001378473.1:c.1587T>A
  • NM_001378474.1:c.1743T>A
  • NM_001378475.1:c.1479T>A
  • NM_004333.6:c.1743T>AMANE SELECT
  • NP_001341538.1:p.Asn581Lys
  • NP_001361173.1:p.Asn621Lys
  • NP_001361187.1:p.Asn621Lys
  • NP_001365396.1:p.Asn584Lys
  • NP_001365397.1:p.Asn581Lys
  • NP_001365398.1:p.Asn559Lys
  • NP_001365399.1:p.Asn547Lys
  • NP_001365400.1:p.Asn544Lys
  • NP_001365401.1:p.Asn529Lys
  • NP_001365402.1:p.Asn529Lys
  • NP_001365403.1:p.Asn581Lys
  • NP_001365404.1:p.Asn493Lys
  • NP_004324.2:p.Asn581Lys
  • LRG_299t1:c.1743T>A
  • LRG_299:g.176373T>A
  • NC_000007.13:g.140453192A>T
  • NM_004333.4:c.1743T>A
  • c.1743T>A
Protein change:
N493K
Links:
dbSNP: rs397516895
NCBI 1000 Genomes Browser:
rs397516895
Molecular consequence:
  • NM_001354609.2:c.1743T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374244.1:c.1863T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374258.1:c.1863T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378467.1:c.1752T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378468.1:c.1743T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378469.1:c.1677T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378470.1:c.1641T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378471.1:c.1632T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378472.1:c.1587T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378473.1:c.1587T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378474.1:c.1743T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378475.1:c.1479T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004333.6:c.1743T>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardio-facio-cutaneous syndrome
Synonyms:
Cardiofaciocutaneous syndrome; CFC syndrome
Identifiers:
MONDO: MONDO:0015280; MedGen: C1275081; Orphanet: 1340; OMIM: PS115150

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000061594Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Pathogenic
(Mar 24, 2011) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

Nava C, Hanna N, Michot C, Pereira S, Pouvreau N, Niihori T, Aoki Y, Matsubara Y, Arveiler B, Lacombe D, Pasmant E, Parfait B, Baumann C, Héron D, Sigaudy S, Toutain A, Rio M, Goldenberg A, Leheup B, Verloes A, Cavé H.

J Med Genet. 2007 Dec;44(12):763-71. Epub 2007 Aug 17.

PubMed [citation]
PMID:
17704260
PMCID:
PMC2652823

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000061594.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

The Asn581Lys variant has been reported in the literature as a de novo variant i n one individual with the clinical features of Cardio-facio-cutaneous syndrome ( Nava 2007). Therefore, this variant is highly likely to be pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: May 19, 2024