NM_002880.4(RAF1):c.1113T>C (p.Asp371=) AND not provided

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Jul 10, 2019
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:: RCV000157688.14

Allele description [Variation Report for NM_002880.4(RAF1):c.1113T>C (p.Asp371=)]

NM_002880.4(RAF1):c.1113T>C (p.Asp371=)

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.1113T>C (p.Asp371=)

HGVS:

NC_000003.12:g.12591788A>G
NG_007467.1:g.77392T>C
NM_001354689.3:c.1173T>C
NM_001354690.3:c.1113T>C
NM_001354691.3:c.870T>C
NM_001354692.3:c.870T>C
NM_001354693.3:c.1014T>C
NM_001354694.3:c.930T>C
NM_001354695.3:c.771T>C
NM_002880.4:c.1113T>CMANE SELECT
NP_001341618.1:p.Asp391=
NP_001341619.1:p.Asp371=
NP_001341620.1:p.Asp290=
NP_001341621.1:p.Asp290=
NP_001341622.1:p.Asp338=
NP_001341623.1:p.Asp310=
NP_001341624.1:p.Asp257=
NP_002871.1:p.Asp371=
NP_002871.1:p.Asp371=
LRG_413t1:c.1113T>C
LRG_413t2:c.1173T>C
LRG_413:g.77392T>C
LRG_413p1:p.Asp371=
LRG_413p2:p.Asp391=
NC_000003.11:g.12633287A>G
NM_002880.3(RAF1):c.1113T>C
NM_002880.3:c.1113T>C
NR_148940.3:n.1557T>C
NR_148941.3:n.1503T>C
NR_148942.3:n.1442T>C
p.Asp371=

Links:

dbSNP: rs146668293

NCBI 1000 Genomes Browser:

rs146668293

Molecular consequence:

NR_148940.3:n.1557T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148941.3:n.1503T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148942.3:n.1442T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001354689.3:c.1173T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001354690.3:c.1113T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001354691.3:c.870T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001354692.3:c.870T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001354693.3:c.1014T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001354694.3:c.930T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001354695.3:c.771T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_002880.4:c.1113T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000207672	Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	no assertion criteria provided	Uncertain significance (Jan 15, 2015)	germline	clinical testing
SCV000515669	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Jul 10, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000207672

Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

no assertion criteria provided

Uncertain significance
(Jan 15, 2015)

germline

clinical testing

SCV000515669

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Jul 10, 2019)

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
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center, SCV000207672.1

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

From GeneDx, SCV000515669.6

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

Last Updated: Feb 25, 2025

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