NM_002880.4(RAF1):c.1741A>G (p.Met581Val) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 6, 2022
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:: RCV002397446.2

Allele description [Variation Report for NM_002880.4(RAF1):c.1741A>G (p.Met581Val)]

NM_002880.4(RAF1):c.1741A>G (p.Met581Val)

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.1741A>G (p.Met581Val)

HGVS:

NC_000003.12:g.12584909T>C
NG_007467.1:g.84271A>G
NM_001354689.3:c.1801A>G
NM_001354690.3:c.1741A>G
NM_001354691.3:c.1498A>G
NM_001354692.3:c.1498A>G
NM_001354693.3:c.1642A>G
NM_001354694.3:c.1558A>G
NM_001354695.3:c.1399A>G
NM_002880.4:c.1741A>GMANE SELECT
NP_001341618.1:p.Met601Val
NP_001341619.1:p.Met581Val
NP_001341620.1:p.Met500Val
NP_001341621.1:p.Met500Val
NP_001341622.1:p.Met548Val
NP_001341623.1:p.Met520Val
NP_001341624.1:p.Met467Val
NP_002871.1:p.Met581Val
NP_002871.1:p.Met581Val
LRG_413t1:c.1741A>G
LRG_413t2:c.1801A>G
LRG_413:g.84271A>G
LRG_413p1:p.Met581Val
LRG_413p2:p.Met601Val
NC_000003.11:g.12626408T>C
NM_002880.3:c.1741A>G
NR_148940.3:n.2185A>G
NR_148941.3:n.2131A>G
NR_148942.3:n.2070A>G

Protein change:

M467V

Links:

dbSNP: rs752063874

NCBI 1000 Genomes Browser:

rs752063874

Molecular consequence:

NM_001354689.3:c.1801A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354690.3:c.1741A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354691.3:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354692.3:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354693.3:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354694.3:c.1558A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354695.3:c.1399A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002880.4:c.1741A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_148940.3:n.2185A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148941.3:n.2131A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148942.3:n.2070A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002710256	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 6, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002710256

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 6, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002710256.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.M581V variant (also known as c.1741A>G), located in coding exon 15 of the RAF1 gene, results from an A to G substitution at nucleotide position 1741. The methionine at codon 581 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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