NM_001354689.3(RAF1):c.768G>T (p.Arg256Ser) AND Noonan syndrome

Clinical significance:Pathogenic (Last evaluated: Sep 19, 2007)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000037701.2

Allele description [Variation Report for NM_001354689.3(RAF1):c.768G>T (p.Arg256Ser)]

NM_001354689.3(RAF1):c.768G>T (p.Arg256Ser)

Gene:
RAF1:Raf-1 proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.2
Genomic location:
Preferred name:
NM_001354689.3(RAF1):c.768G>T (p.Arg256Ser)
Other names:
p.R256S:AGG>AGT; NM_002880.3(RAF1):c.768G>T
HGVS:
  • NC_000003.12:g.12604202C>A
  • NC_000003.12:g.12604202C>A
  • NG_007467.1:g.64978G>T
  • NM_001354689.3:c.768G>TMANE SELECT
  • NM_001354690.3:c.768G>T
  • NM_001354691.3:c.525G>T
  • NM_001354692.3:c.525G>T
  • NM_001354693.3:c.669G>T
  • NM_001354694.3:c.525G>T
  • NM_001354695.3:c.426G>T
  • NM_002880.3:c.768G>T
  • NM_002880.4:c.768G>T
  • NP_001341618.1:p.Arg256Ser
  • NP_001341619.1:p.Arg256Ser
  • NP_001341620.1:p.Arg175Ser
  • NP_001341621.1:p.Arg175Ser
  • NP_001341622.1:p.Arg223Ser
  • NP_001341623.1:p.Arg175Ser
  • NP_001341624.1:p.Arg142Ser
  • NP_002871.1:p.Arg256Ser
  • NP_002871.1:p.Arg256Ser
  • LRG_413t1:c.768G>T
  • LRG_413t2:c.768G>T
  • LRG_413:g.64978G>T
  • LRG_413p1:p.Arg256Ser
  • LRG_413p2:p.Arg256Ser
  • NC_000003.11:g.12645701C>A
  • NC_000003.11:g.12645701C>A
  • NR_148940.3:n.1099G>T
  • NR_148941.3:n.1099G>T
  • NR_148942.3:n.1099G>T
  • P04049:p.Arg256Ser
  • c.768G>T
Protein change:
R142S
Links:
UniProtKB: P04049#VAR_037807; dbSNP: rs397516826
NCBI 1000 Genomes Browser:
rs397516826
Molecular consequence:
  • NM_001354689.3:c.768G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354690.3:c.768G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354691.3:c.525G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354692.3:c.525G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354693.3:c.669G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354694.3:c.525G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354695.3:c.426G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002880.3:c.768G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002880.4:c.768G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148940.3:n.1099G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148941.3:n.1099G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148942.3:n.1099G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
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
SCV000061363Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Pathogenic
(Sep 19, 2007)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided21not providednot providednot providedclinical testing

Citations

PubMed

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Landstrom A, Bos JM, Ommen SR, Esposito G, Lepri F, Faul C, Mundel P, López Siguero JP, Tenconi R, Selicorni A, Rossi C, Mazzanti L, Torrente I, et al.

Nat Genet. 2007 Aug;39(8):1007-12. Epub 2007 Jul 1.

PubMed [citation]
PMID:
17603483

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, Partners HealthCare Personalized Medicine, SCV000061363.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided1not provided

Last Updated: Oct 24, 2021

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