NM_001354689.3(RAF1):c.782C>G (p.Pro261Arg) AND Noonan syndrome

Clinical significance:Pathogenic (Last evaluated: Feb 17, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000037706.4

Allele description [Variation Report for NM_001354689.3(RAF1):c.782C>G (p.Pro261Arg)]

NM_001354689.3(RAF1):c.782C>G (p.Pro261Arg)

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.782C>G (p.Pro261Arg)
Other names:
p.P261R:CCT>CGT
HGVS:
  • NC_000003.12:g.12604188G>C
  • NG_007467.1:g.64992C>G
  • NM_001354689.3:c.782C>GMANE SELECT
  • NM_001354690.3:c.782C>G
  • NM_001354691.3:c.539C>G
  • NM_001354692.3:c.539C>G
  • NM_001354693.3:c.683C>G
  • NM_001354694.3:c.539C>G
  • NM_001354695.3:c.440C>G
  • NM_002880.3:c.782C>G
  • NM_002880.4:c.782C>G
  • NP_001341618.1:p.Pro261Arg
  • NP_001341619.1:p.Pro261Arg
  • NP_001341620.1:p.Pro180Arg
  • NP_001341621.1:p.Pro180Arg
  • NP_001341622.1:p.Pro228Arg
  • NP_001341623.1:p.Pro180Arg
  • NP_001341624.1:p.Pro147Arg
  • NP_002871.1:p.Pro261Arg
  • NP_002871.1:p.Pro261Arg
  • LRG_413t1:c.782C>G
  • LRG_413t2:c.782C>G
  • LRG_413:g.64992C>G
  • LRG_413p1:p.Pro261Arg
  • LRG_413p2:p.Pro261Arg
  • NC_000003.11:g.12645687G>C
  • NC_000003.11:g.12645687G>C
  • NR_148940.3:n.1113C>G
  • NR_148941.3:n.1113C>G
  • NR_148942.3:n.1113C>G
  • c.782C>G
Protein change:
P147R
Links:
dbSNP: rs397516828
NCBI 1000 Genomes Browser:
rs397516828
Molecular consequence:
  • NM_001354689.3:c.782C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354690.3:c.782C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354691.3:c.539C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354692.3:c.539C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354693.3:c.683C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354694.3:c.539C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354695.3:c.440C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002880.3:c.782C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002880.4:c.782C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148940.3:n.1113C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148941.3:n.1113C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148942.3:n.1113C>G - 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
SCV000061368Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Pathogenic
(Feb 17, 2016)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A Novel Noonan Syndrome RAF1 Mutation: Lethal Course in a Preterm Infant.

Ratola A, Silva HM, Guedes A, Mota C, Braga AC, Oliveira D, Alegria A, Carvalho C, Álvares S, Proença E.

Pediatr Rep. 2015 May 25;7(2):5955. doi: 10.4081/pr.2015.5955.

PubMed [citation]
PMID:
26266034
PMCID:
PMC4508625

External ear anomalies and hearing impairment in Noonan Syndrome.

van Trier DC, van Nierop J, Draaisma JMT, van der Burgt I, Kunst H, Croonen EA, Admiraal RJC.

Int J Pediatr Otorhinolaryngol. 2015 Jun;79(6):874-878. doi: 10.1016/j.ijporl.2015.03.021. Epub 2015 Apr 1.

PubMed [citation]
PMID:
25862627
See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000061368.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)

Description

proposed classification - variant undergoing re-assessment, contact laboratory

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

Last Updated: Oct 24, 2021

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