U.S. flag

An official website of the United States government

NM_002880.4(RAF1):c.784A>C (p.Asn262His) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 19, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002411596.2

Allele description [Variation Report for NM_002880.4(RAF1):c.784A>C (p.Asn262His)]

NM_002880.4(RAF1):c.784A>C (p.Asn262His)

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.784A>C (p.Asn262His)
HGVS:
  • NC_000003.12:g.12604186T>G
  • NG_007467.1:g.64994A>C
  • NM_001354689.3:c.784A>C
  • NM_001354690.3:c.784A>C
  • NM_001354691.3:c.541A>C
  • NM_001354692.3:c.541A>C
  • NM_001354693.3:c.685A>C
  • NM_001354694.3:c.541A>C
  • NM_001354695.3:c.442A>C
  • NM_002880.4:c.784A>CMANE SELECT
  • NP_001341618.1:p.Asn262His
  • NP_001341619.1:p.Asn262His
  • NP_001341620.1:p.Asn181His
  • NP_001341621.1:p.Asn181His
  • NP_001341622.1:p.Asn229His
  • NP_001341623.1:p.Asn181His
  • NP_001341624.1:p.Asn148His
  • NP_002871.1:p.Asn262His
  • NP_002871.1:p.Asn262His
  • LRG_413t1:c.784A>C
  • LRG_413t2:c.784A>C
  • LRG_413:g.64994A>C
  • LRG_413p1:p.Asn262His
  • LRG_413p2:p.Asn262His
  • NC_000003.11:g.12645685T>G
  • NM_002880.3:c.784A>C
  • NR_148940.3:n.1115A>C
  • NR_148941.3:n.1115A>C
  • NR_148942.3:n.1115A>C
Protein change:
N148H
Links:
dbSNP: rs1575573204
NCBI 1000 Genomes Browser:
rs1575573204
Molecular consequence:
  • NM_001354689.3:c.784A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354690.3:c.784A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354691.3:c.541A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354692.3:c.541A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354693.3:c.685A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354694.3:c.541A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354695.3:c.442A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002880.4:c.784A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148940.3:n.1115A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148941.3:n.1115A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148942.3:n.1115A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002670055Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 19, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002670055.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.N262H variant (also known as c.784A>C), located in coding exon 6 of the RAF1 gene, results from an A to C substitution at nucleotide position 784. The asparagine at codon 262 is replaced by histidine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024