NM_006912.6(RIT1):c.246T>A (p.Phe82Leu) AND Noonan syndrome 1

Clinical significance:Pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000856765.1

Allele description [Variation Report for NM_006912.6(RIT1):c.246T>A (p.Phe82Leu)]

NM_006912.6(RIT1):c.246T>A (p.Phe82Leu)

Gene:
RIT1:Ras like without CAAX 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_006912.6(RIT1):c.246T>A (p.Phe82Leu)
HGVS:
  • NC_000001.11:g.155904494A>T
  • NG_033885.1:g.11909T>A
  • NM_001256820.2:c.138T>A
  • NM_001256821.2:c.297T>A
  • NM_006912.6:c.246T>AMANE SELECT
  • NP_001243749.1:p.Phe46Leu
  • NP_001243750.1:p.Phe99Leu
  • NP_008843.1:p.Phe82Leu
  • LRG_1372t1:c.246T>A
  • LRG_1372:g.11909T>A
  • LRG_1372p1:p.Phe82Leu
  • NC_000001.10:g.155874285A>T
  • NM_006912.5:c.246T>A
  • Q92963:p.Phe82Leu
Protein change:
F46L
Links:
UniProtKB: Q92963#VAR_070152; dbSNP: rs730881014
NCBI 1000 Genomes Browser:
rs730881014
Molecular consequence:
  • NM_001256820.2:c.138T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256821.2:c.297T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006912.6:c.246T>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000999319Institute for Genomic Statistics and Bioinformatics, University Hospital Bonncriteria provided, single submitter
Pathogenicunknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, SCV000999319.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 7, 2021

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