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NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp) AND Noonan syndrome

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000824929.2

Allele description [Variation Report for NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp)]

NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp)

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.2135C>A (p.Ala712Asp)
HGVS:
  • NC_000007.14:g.140734763G>T
  • NG_007873.3:g.195002C>A
  • NM_001354609.2:c.2135C>A
  • NM_001374244.1:c.2255C>A
  • NM_001374258.1:c.2255C>A
  • NM_001378467.1:c.2144C>A
  • NM_001378468.1:c.2127+5049C>A
  • NM_001378469.1:c.2069C>A
  • NM_001378470.1:c.2033C>A
  • NM_001378471.1:c.2024C>A
  • NM_001378472.1:c.1979C>A
  • NM_001378473.1:c.1979C>A
  • NM_001378474.1:c.2127+5049C>A
  • NM_001378475.1:c.1871C>A
  • NM_004333.6:c.2135C>AMANE SELECT
  • NP_001341538.1:p.Ala712Asp
  • NP_001361173.1:p.Ala752Asp
  • NP_001361187.1:p.Ala752Asp
  • NP_001365396.1:p.Ala715Asp
  • NP_001365398.1:p.Ala690Asp
  • NP_001365399.1:p.Ala678Asp
  • NP_001365400.1:p.Ala675Asp
  • NP_001365401.1:p.Ala660Asp
  • NP_001365402.1:p.Ala660Asp
  • NP_001365404.1:p.Ala624Asp
  • NP_004324.2:p.Ala712Asp
  • LRG_299t1:c.2135C>A
  • LRG_299:g.195002C>A
  • NC_000007.13:g.140434563G>T
  • NM_004333.4:c.2135C>A
Protein change:
A624D
Links:
dbSNP: rs727502904
NCBI 1000 Genomes Browser:
rs727502904
Molecular consequence:
  • NM_001378468.1:c.2127+5049C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378474.1:c.2127+5049C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354609.2:c.2135C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374244.1:c.2255C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374258.1:c.2255C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378467.1:c.2144C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378469.1:c.2069C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378470.1:c.2033C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378471.1:c.2024C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378472.1:c.1979C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378473.1:c.1979C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378475.1:c.1871C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004333.6:c.2135C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Noonan syndrome (NS)
Synonyms:
Noonan's syndrome; Pseudo-Turner syndrome
Identifiers:
MONDO: MONDO:0018997; MeSH: D009634; MedGen: C0028326; OMIM: PS163950

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000965961Service de Génétique Moléculaire, Hôpital Robert Debré
no assertion criteria provided
Likely pathogenicde novoclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided1not providedclinical testing

Details of each submission

From Service de Génétique Moléculaire, Hôpital Robert Debré, SCV000965961.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024