NM_002880.4(RAF1):c.1711A>G (p.Ser571Gly) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 1, 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:: RCV002263313.16

Allele description [Variation Report for NM_002880.4(RAF1):c.1711A>G (p.Ser571Gly)]

NM_002880.4(RAF1):c.1711A>G (p.Ser571Gly)

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.1711A>G (p.Ser571Gly)

HGVS:

NC_000003.12:g.12584939T>C
NG_007467.1:g.84241A>G
NM_001354689.3:c.1771A>G
NM_001354690.3:c.1711A>G
NM_001354691.3:c.1468A>G
NM_001354692.3:c.1468A>G
NM_001354693.3:c.1612A>G
NM_001354694.3:c.1528A>G
NM_001354695.3:c.1369A>G
NM_002880.4:c.1711A>GMANE SELECT
NP_001341618.1:p.Ser591Gly
NP_001341619.1:p.Ser571Gly
NP_001341620.1:p.Ser490Gly
NP_001341621.1:p.Ser490Gly
NP_001341622.1:p.Ser538Gly
NP_001341623.1:p.Ser510Gly
NP_001341624.1:p.Ser457Gly
NP_002871.1:p.Ser571Gly
LRG_413t2:c.1771A>G
LRG_413:g.84241A>G
LRG_413p2:p.Ser591Gly
NC_000003.11:g.12626438T>C
NR_148940.3:n.2155A>G
NR_148941.3:n.2101A>G
NR_148942.3:n.2040A>G

Protein change:

S457G

Links:

dbSNP: rs2125319809

NCBI 1000 Genomes Browser:

rs2125319809

Molecular consequence:

NM_001354689.3:c.1771A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354690.3:c.1711A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354691.3:c.1468A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354692.3:c.1468A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354693.3:c.1612A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354694.3:c.1528A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354695.3:c.1369A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002880.4:c.1711A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_148940.3:n.2155A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148941.3:n.2101A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148942.3:n.2040A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

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
SCV002544767	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Aug 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002544767

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Uncertain significance
(Aug 1, 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	2	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV002544767.16

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

#	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		2	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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