NM_001374258.1(BRAF):c.735A>C (p.Leu245Phe) AND LEOPARD syndrome 3

Clinical significance:Pathogenic (Last evaluated: Sep 1, 2009)

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:
RCV000171142.3

Allele description [Variation Report for NM_001374258.1(BRAF):c.735A>C (p.Leu245Phe)]

NM_001374258.1(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_001374258.1(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>CMANE SELECT
  • 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>C
  • 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:
LEOPARD syndrome 3 (LPRD3)
Identifiers:
MONDO: MONDO:0013380; MedGen: C3150971; Orphanet: 500; OMIM: 613707

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000223706OMIMno assertion criteria providedPathogenic
(Sep 1, 2009)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence.

Koudova M, Seemanova E, Zenker M.

Eur J Med Genet. 2009 Sep-Oct;52(5):337-40. doi: 10.1016/j.ejmg.2009.04.006. Epub 2009 May 4.

PubMed [citation]
PMID:
19416762

Details of each submission

From OMIM, SCV000223706.2

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

Description

In a 17-year-old Czech boy with LEOPARD syndrome-3 (LPRD3; 613707), Koudova et al. (2009) identified a de novo heterozygous c.735A-G transition in exon 6 of the BRAF gene, resulting in a leu245-to-phe (L245F) substitution at a highly conserved residue. The mutation was not found in more than 300 controls, and functional studies were not performed. Notably, the patient did not have cognitive impairment.

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

Last Updated: Nov 27, 2021

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