NM_002880.4(RAF1):c.94A>G (p.Ile32Val) AND not provided

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Sep 1, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000680302.9

Allele description [Variation Report for NM_002880.4(RAF1):c.94A>G (p.Ile32Val)]

NM_002880.4(RAF1):c.94A>G (p.Ile32Val)

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.94A>G (p.Ile32Val)

Other names:

p.I32V:ATA>GTA; NM_002880.3(RAF1):c.94A>G

HGVS:

NC_000003.12:g.12618628T>C
NG_007467.1:g.50552A>G
NM_001354689.3:c.94A>G
NM_001354690.3:c.94A>G
NM_001354691.3:c.-37A>G
NM_001354692.3:c.-37A>G
NM_001354693.3:c.94A>G
NM_001354694.3:c.-37A>G
NM_001354695.3:c.-37A>G
NM_002880.4:c.94A>GMANE SELECT
NP_001341618.1:p.Ile32Val
NP_001341619.1:p.Ile32Val
NP_001341622.1:p.Ile32Val
NP_002871.1:p.Ile32Val
NP_002871.1:p.Ile32Val
LRG_413t1:c.94A>G
LRG_413t2:c.94A>G
LRG_413:g.50552A>G
LRG_413p1:p.Ile32Val
LRG_413p2:p.Ile32Val
NC_000003.11:g.12660127T>C
NM_002880.3:c.94A>G
NR_148940.3:n.425A>G
NR_148941.3:n.425A>G
NR_148942.3:n.425A>G

Protein change:

I32V

Links:

dbSNP: rs372738063

NCBI 1000 Genomes Browser:

rs372738063

Molecular consequence:

NM_001354691.3:c.-37A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354692.3:c.-37A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354694.3:c.-37A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354695.3:c.-37A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354689.3:c.94A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354690.3:c.94A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354693.3:c.94A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002880.4:c.94A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_148940.3:n.425A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148941.3:n.425A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148942.3:n.425A>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
SCV000209002	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely benign (Aug 9, 2018)	germline	clinical testing	Citation Link,
SCV004701047	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Sep 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000209002

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely benign
(Aug 9, 2018)

germline

clinical testing

Citation Link,

SCV004701047

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

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

Likely benign
(Sep 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	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000209002.14

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV004701047.8

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

Description

RAF1: BP4

#	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		1	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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