NM_002880.4(RAF1):c.1742T>C (p.Met581Thr) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 27, 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:: RCV002273372.2

Allele description [Variation Report for NM_002880.4(RAF1):c.1742T>C (p.Met581Thr)]

NM_002880.4(RAF1):c.1742T>C (p.Met581Thr)

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.1742T>C (p.Met581Thr)

HGVS:

NC_000003.12:g.12584908A>G
NG_007467.1:g.84272T>C
NM_001354689.3:c.1802T>C
NM_001354690.3:c.1742T>C
NM_001354691.3:c.1499T>C
NM_001354692.3:c.1499T>C
NM_001354693.3:c.1643T>C
NM_001354694.3:c.1559T>C
NM_001354695.3:c.1400T>C
NM_002880.4:c.1742T>CMANE SELECT
NP_001341618.1:p.Met601Thr
NP_001341619.1:p.Met581Thr
NP_001341620.1:p.Met500Thr
NP_001341621.1:p.Met500Thr
NP_001341622.1:p.Met548Thr
NP_001341623.1:p.Met520Thr
NP_001341624.1:p.Met467Thr
NP_002871.1:p.Met581Thr
LRG_413t1:c.1742T>C
LRG_413t2:c.1802T>C
LRG_413:g.84272T>C
LRG_413p2:p.Met601Thr
NC_000003.11:g.12626407A>G
NM_002880.3:c.1742T>C
NR_148940.3:n.2186T>C
NR_148941.3:n.2132T>C
NR_148942.3:n.2071T>C

Protein change:

M467T

Links:

dbSNP: rs2125319605

NCBI 1000 Genomes Browser:

rs2125319605

Molecular consequence:

NM_001354689.3:c.1802T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354690.3:c.1742T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354691.3:c.1499T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354692.3:c.1499T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354693.3:c.1643T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354694.3:c.1559T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354695.3:c.1400T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002880.4:c.1742T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_148940.3:n.2186T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148941.3:n.2132T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148942.3:n.2071T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002558086	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jan 27, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002558086

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jan 27, 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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV002558086.2

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

Description

Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variants in this gene are often considered pathogenic (HGMD); This variant is associated with the following publications: (PMID: 29493581)

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

Last Updated: Dec 24, 2023

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