NM_001354689.3(RAF1):c.1532C>G (p.Thr511Arg) AND Noonan syndrome 5

Clinical significance:Pathogenic (Last evaluated: Aug 1, 2007)

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:
RCV000014988.25

Allele description [Variation Report for NM_001354689.3(RAF1):c.1532C>G (p.Thr511Arg)]

NM_001354689.3(RAF1):c.1532C>G (p.Thr511Arg)

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.1532C>G (p.Thr511Arg)
HGVS:
  • NC_000003.12:g.12585745G>C
  • NG_007467.1:g.83435C>G
  • NM_001354689.3:c.1532C>GMANE SELECT
  • NM_001354690.2:c.1472C>G
  • NM_001354691.2:c.1229C>G
  • NM_001354692.2:c.1229C>G
  • NM_001354693.2:c.1373C>G
  • NM_001354694.2:c.1289C>G
  • NM_001354695.2:c.1130C>G
  • NM_002880.3:c.1472C>G
  • NP_001341618.1:p.Thr511Arg
  • NP_001341619.1:p.Thr491Arg
  • NP_001341620.1:p.Thr410Arg
  • NP_001341621.1:p.Thr410Arg
  • NP_001341622.1:p.Thr458Arg
  • NP_001341623.1:p.Thr430Arg
  • NP_001341624.1:p.Thr377Arg
  • NP_002871.1:p.Thr491Arg
  • LRG_413t1:c.1472C>G
  • LRG_413t2:c.1532C>G
  • LRG_413:g.83435C>G
  • LRG_413p1:p.Thr491Arg
  • LRG_413p2:p.Thr511Arg
  • NC_000003.11:g.12627244G>C
  • NR_148940.2:n.1916C>G
  • NR_148941.2:n.1862C>G
  • NR_148942.2:n.1801C>G
  • P04049:p.Thr491Arg
Protein change:
T377R; THR491ARG
Links:
UniProtKB: P04049#VAR_037819; OMIM: 164760.0003; dbSNP: rs80338799
NCBI 1000 Genomes Browser:
rs80338799
Molecular consequence:
  • NM_001354689.3:c.1532C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354690.2:c.1472C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354691.2:c.1229C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354692.2:c.1229C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354693.2:c.1373C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354694.2:c.1289C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354695.2:c.1130C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002880.3:c.1472C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148940.2:n.1916C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148941.2:n.1862C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148942.2:n.1801C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Noonan syndrome 5 (NS5)
Synonyms:
RAF1 gene related Noonan syndrome
Identifiers:
MONDO: MONDO:0012690; MedGen: C1969057; Orphanet: 648; OMIM: 611553

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000035244OMIMno assertion criteria providedPathogenic
(Aug 1, 2007)
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

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

Details of each submission

From OMIM, SCV000035244.1

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

Description

In a sister and brother with Noonan syndrome (NS5; 611553), Pandit et al. (2007) identified heterozygosity for a 1472C-G transversion in exon 14 of the RAF1 gene, resulting in a thr491-to-arg (T491R) substitution in the CR3 domain. Neither sib had hypertrophic cardiomyopathy. The mutation was not found in 210 control individuals.

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

Last Updated: Oct 7, 2021

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