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NM_001354689.3(RAF1):c.786T>A (p.Asn262Lys)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: May 26, 2021)
Last evaluated:
May 13, 2019
Accession:
VCV000044634.4
Variation ID:
44634
Description:
single nucleotide variant
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NM_001354689.3(RAF1):c.786T>A (p.Asn262Lys)

Allele ID
53801
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p25.2
Genomic location
3: 12604184 (GRCh38) GRCh38 UCSC
3: 12645683 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.12645683A>T
NC_000003.12:g.12604184A>T
NM_001354689.3:c.786T>A MANE Select NP_001341618.1:p.Asn262Lys missense
... more HGVS
Protein change
N262K, N148K, N229K, N181K
Other names
-
Canonical SPDI
NC_000003.12:12604183:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA261628
dbSNP: rs397516829
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts May 13, 2019 RCV000388842.2
Pathogenic 1 criteria provided, single submitter Sep 24, 2014 RCV000037707.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RAF1 No evidence available No evidence available GRCh38
GRCh37
566 619

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 03, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000329734.7
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The N262K variant has been reported previously as a de novo occurrence in a patient with Noonan spectrum disorder (Kobayashi et al., 2010). N262K is … (more)
Pathogenic
(Sep 24, 2014)
criteria provided, single submitter
Method: clinical testing
Noonan syndrome
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000061369.6
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (2)
Comment:
The Asn262Lys variant has been reported in two individuals with clinical feature s of a RASopathy and was identified to occur de novo in both … (more)
Pathogenic
(May 13, 2019)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001714080.1
Submitted: (May 26, 2021)
Evidence details
Publications
PubMed (3)
Comment:
PM1, PM2, PM5, PM6_Strong, PS3_Moderate

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort. Chen H Orphanet journal of rare diseases 2019 PMID: 30732632
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. Kobayashi T Human mutation 2010 PMID: 20052757
Mutations in conserved regions 1, 2, and 3 of Raf-1 that activate transforming activity. Chan EY Molecular carcinogenesis 2002 PMID: 11933072

Text-mined citations for rs397516829...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jul 07, 2021