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NM_004333.6(BRAF):c.722C>G (p.Thr241Arg) AND Noonan syndrome 1

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000208548.2

Allele description [Variation Report for NM_004333.6(BRAF):c.722C>G (p.Thr241Arg)]

NM_004333.6(BRAF):c.722C>G (p.Thr241Arg)

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.722C>G (p.Thr241Arg)
HGVS:
  • NC_000007.14:g.140801550G>C
  • NG_007873.3:g.128215C>G
  • NM_001354609.2:c.722C>G
  • NM_001374244.1:c.722C>G
  • NM_001374258.1:c.722C>G
  • NM_001378467.1:c.731C>G
  • NM_001378468.1:c.722C>G
  • NM_001378469.1:c.722C>G
  • NM_001378470.1:c.620C>G
  • NM_001378471.1:c.722C>G
  • NM_001378472.1:c.566C>G
  • NM_001378473.1:c.566C>G
  • NM_001378474.1:c.722C>G
  • NM_001378475.1:c.458C>G
  • NM_004333.6:c.722C>GMANE SELECT
  • NP_001341538.1:p.Thr241Arg
  • NP_001361173.1:p.Thr241Arg
  • NP_001361187.1:p.Thr241Arg
  • NP_001365396.1:p.Thr244Arg
  • NP_001365397.1:p.Thr241Arg
  • NP_001365398.1:p.Thr241Arg
  • NP_001365399.1:p.Thr207Arg
  • NP_001365400.1:p.Thr241Arg
  • NP_001365401.1:p.Thr189Arg
  • NP_001365402.1:p.Thr189Arg
  • NP_001365403.1:p.Thr241Arg
  • NP_001365404.1:p.Thr153Arg
  • NP_004324.2:p.Thr241Arg
  • LRG_299t1:c.722C>G
  • LRG_299:g.128215C>G
  • NC_000007.13:g.140501350G>C
  • NM_004333.4:c.722C>G
  • P15056:p.Thr241Arg
Protein change:
T153R; THR241ARG
Links:
UniProtKB: P15056#VAR_058622; OMIM: 164757.0023; dbSNP: rs387906660
NCBI 1000 Genomes Browser:
rs387906660
Molecular consequence:
  • NM_001354609.2:c.722C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374244.1:c.722C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374258.1:c.722C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378467.1:c.731C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378468.1:c.722C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378469.1:c.722C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378470.1:c.620C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378471.1:c.722C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378472.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378473.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378474.1:c.722C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378475.1:c.458C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004333.6:c.722C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Noonan syndrome 1 (NS1)
Synonyms:
Turner Syndrome, Male; Turner phenotype with normal karyotype; Female pseudo-Turner syndrome
Identifiers:
MONDO: MONDO:0008104; MedGen: C4551602; Orphanet: 648; OMIM: 163950

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000264342GeneReviews
no classification provided
not providedgermlineliterature only

Help

Summary from all submissions

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

Details of each submission

From GeneReviews, SCV000264342.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024