NM_001354689.3(RAF1):c.1532C>T (p.Thr511Ile) AND Noonan syndrome with multiple lentigines

Clinical significance:Pathogenic (Last evaluated: Nov 16, 2010)

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:
RCV000020507.2

Allele description [Variation Report for NM_001354689.3(RAF1):c.1532C>T (p.Thr511Ile)]

NM_001354689.3(RAF1):c.1532C>T (p.Thr511Ile)

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>T (p.Thr511Ile)
Other names:
p.T491I:ACA>ATA; NM_002880.3(RAF1):c.1472C>T
HGVS:
  • NC_000003.12:g.12585745G>A
  • NC_000003.12:g.12585745G>A
  • NG_007467.1:g.83435C>T
  • NM_001354689.3:c.1532C>TMANE SELECT
  • NM_001354690.3:c.1472C>T
  • NM_001354691.3:c.1229C>T
  • NM_001354692.3:c.1229C>T
  • NM_001354693.3:c.1373C>T
  • NM_001354694.3:c.1289C>T
  • NM_001354695.3:c.1130C>T
  • NM_002880.3:c.1472C>T
  • NM_002880.4:c.1472C>T
  • NP_001341618.1:p.Thr511Ile
  • NP_001341619.1:p.Thr491Ile
  • NP_001341620.1:p.Thr410Ile
  • NP_001341621.1:p.Thr410Ile
  • NP_001341622.1:p.Thr458Ile
  • NP_001341623.1:p.Thr430Ile
  • NP_001341624.1:p.Thr377Ile
  • NP_002871.1:p.Thr491Ile
  • NP_002871.1:p.Thr491Ile
  • LRG_413t1:c.1472C>T
  • LRG_413t2:c.1532C>T
  • LRG_413:g.83435C>T
  • LRG_413p1:p.Thr491Ile
  • LRG_413p2:p.Thr511Ile
  • NC_000003.11:g.12627244G>A
  • NC_000003.11:g.12627244G>A
  • NR_148940.3:n.1916C>T
  • NR_148941.3:n.1862C>T
  • NR_148942.3:n.1801C>T
  • P04049:p.Thr491Ile
  • c.1472C>T
Protein change:
T377I
Links:
UniProtKB: P04049#VAR_037818; dbSNP: rs80338799
NCBI 1000 Genomes Browser:
rs80338799
Molecular consequence:
  • NM_001354689.3:c.1532C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354690.3:c.1472C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354691.3:c.1229C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354692.3:c.1229C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354693.3:c.1373C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354694.3:c.1289C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354695.3:c.1130C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002880.3:c.1472C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002880.4:c.1472C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148940.3:n.1916C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148941.3:n.1862C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148942.3:n.1801C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Noonan syndrome with multiple lentigines (NSML)
Synonyms:
Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, Deafness; Multiple lentigines syndrome; Cardiomyopathic lentiginosis; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007893; MedGen: C0175704; Orphanet: 500; OMIM: PS151100

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000040958GeneReviewsno assertion criteria providedpathologic
(Nov 16, 2010)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Details of each submission

From GeneReviews, SCV000040958.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Oct 24, 2021

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