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NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) AND Noonan syndrome with multiple lentigines

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000020509.11

Allele description [Variation Report for NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)]

NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)

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_002880.4(RAF1):c.770C>T (p.Ser257Leu)
Other names:
p.S257L:TCG>TTG; NM_002880.3(RAF1):c.770C>T
HGVS:
  • NC_000003.12:g.12604200G>A
  • NG_007467.1:g.64980C>T
  • NM_001354689.3:c.770C>T
  • NM_001354690.3:c.770C>T
  • NM_001354691.3:c.527C>T
  • NM_001354692.3:c.527C>T
  • NM_001354693.3:c.671C>T
  • NM_001354694.3:c.527C>T
  • NM_001354695.3:c.428C>T
  • NM_002880.4:c.770C>TMANE SELECT
  • NP_001341618.1:p.Ser257Leu
  • NP_001341619.1:p.Ser257Leu
  • NP_001341620.1:p.Ser176Leu
  • NP_001341621.1:p.Ser176Leu
  • NP_001341622.1:p.Ser224Leu
  • NP_001341623.1:p.Ser176Leu
  • NP_001341624.1:p.Ser143Leu
  • NP_002871.1:p.Ser257Leu
  • NP_002871.1:p.Ser257Leu
  • LRG_413t1:c.770C>T
  • LRG_413t2:c.770C>T
  • LRG_413:g.64980C>T
  • LRG_413p1:p.Ser257Leu
  • LRG_413p2:p.Ser257Leu
  • NC_000003.11:g.12645699G>A
  • NM_001354689.1:c.770C>T
  • NM_002880.2:c.770C>T
  • NM_002880.3:c.770C>T
  • NM_002880.4:c.770C>T
  • NR_148940.3:n.1101C>T
  • NR_148941.3:n.1101C>T
  • NR_148942.3:n.1101C>T
  • P04049:p.Ser257Leu
Protein change:
S143L; SER257LEU
Links:
UniProtKB: P04049#VAR_037808; OMIM: 164760.0001; dbSNP: rs80338796
NCBI 1000 Genomes Browser:
rs80338796
Molecular consequence:
  • NM_001354689.3:c.770C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354690.3:c.770C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354691.3:c.527C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354692.3:c.527C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354693.3:c.671C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354694.3:c.527C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354695.3:c.428C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002880.4:c.770C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148940.3:n.1101C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148941.3:n.1101C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148942.3:n.1101C>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; Cardiomyopathic lentiginosis; LEOPARD syndrome
Identifiers:
MONDO: MONDO:0007893; MedGen: C0175704; Orphanet: 500; OMIM: PS151100

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000040960GeneReviews
no classification provided
not providedunknownliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnot 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

Noonan Syndrome with Multiple Lentigines.

Gelb BD, Tartaglia M.

2007 Nov 30 [updated 2022 Jun 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]
PMID:
20301557

Details of each submission

From GeneReviews, SCV000040960.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Sep 16, 2024