NM_002880.4(RAF1):c.802A>G (p.Thr268Ala) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 17, 2017
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:: RCV000587566.1

Allele description [Variation Report for NM_002880.4(RAF1):c.802A>G (p.Thr268Ala)]

NM_002880.4(RAF1):c.802A>G (p.Thr268Ala)

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.802A>G (p.Thr268Ala)

HGVS:

NC_000003.12:g.12604168T>C
NG_007467.1:g.65012A>G
NM_001354689.3:c.802A>G
NM_001354690.3:c.802A>G
NM_001354691.3:c.559A>G
NM_001354692.3:c.559A>G
NM_001354693.3:c.703A>G
NM_001354694.3:c.559A>G
NM_001354695.3:c.460A>G
NM_002880.4:c.802A>GMANE SELECT
NP_001341618.1:p.Thr268Ala
NP_001341619.1:p.Thr268Ala
NP_001341620.1:p.Thr187Ala
NP_001341621.1:p.Thr187Ala
NP_001341622.1:p.Thr235Ala
NP_001341623.1:p.Thr187Ala
NP_001341624.1:p.Thr154Ala
NP_002871.1:p.Thr268Ala
NP_002871.1:p.Thr268Ala
LRG_413t1:c.802A>G
LRG_413t2:c.802A>G
LRG_413:g.65012A>G
LRG_413p1:p.Thr268Ala
LRG_413p2:p.Thr268Ala
NC_000003.11:g.12645667T>C
NM_002880.3:c.802A>G
NR_148940.3:n.1133A>G
NR_148941.3:n.1133A>G
NR_148942.3:n.1133A>G

Protein change:

T154A

Links:

dbSNP: rs1553613743

NCBI 1000 Genomes Browser:

rs1553613743

Molecular consequence:

NM_001354689.3:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354690.3:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354691.3:c.559A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354692.3:c.559A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354693.3:c.703A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354694.3:c.559A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354695.3:c.460A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002880.4:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_148940.3:n.1133A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148941.3:n.1133A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148942.3:n.1133A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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LOC129591956 [Paramacrobiotus metropolitanus]
LOC129591956 [Paramacrobiotus metropolitanus]
Gene ID:129591956

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000698114	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Apr 17, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 10801448, 9933647 LabCorp Variant Classification Summary - May 2015.docx Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000698114

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Apr 17, 2017)

germline

clinical testing

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

LabCorp Variant Classification Summary - May 2015.docx

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

Citations

PubMed

Phosphatidylinositol 3-kinase regulates Raf1 through Pak phosphorylation of serine 338.

Chaudhary A, King WG, Mattaliano MD, Frost JA, Diaz B, Morrison DK, Cobb MH, Marshall MS, Brugge JS.

Curr Biol. 2000 May 4;10(9):551-4.

PubMed [citation]

PMID:: 10801448

Characterization of Raf-1 activation in mitosis.

Laird AD, Morrison DK, Shalloway D.

J Biol Chem. 1999 Feb 12;274(7):4430-9.

PubMed [citation]

PMID:: 9933647

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000698114.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

Variant summary: The RAF1 c.802A>G (p.Thr268Ala) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). This variant is absent in 121404 control chromosomes. The variant has not, to our knowledge, been reported in affected individuals in the literature or by reputable databases/clinical labs. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

#	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: Apr 23, 2022

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