NM_002880.4(RAF1):c.1708C>G (p.Leu570Val) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 17, 2015
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:: RCV000213522.4

Allele description [Variation Report for NM_002880.4(RAF1):c.1708C>G (p.Leu570Val)]

NM_002880.4(RAF1):c.1708C>G (p.Leu570Val)

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.1708C>G (p.Leu570Val)

HGVS:

NC_000003.12:g.12584942G>C
NG_007467.1:g.84238C>G
NM_001354689.3:c.1768C>G
NM_001354690.3:c.1708C>G
NM_001354691.3:c.1465C>G
NM_001354692.3:c.1465C>G
NM_001354693.3:c.1609C>G
NM_001354694.3:c.1525C>G
NM_001354695.3:c.1366C>G
NM_002880.4:c.1708C>GMANE SELECT
NP_001341618.1:p.Leu590Val
NP_001341619.1:p.Leu570Val
NP_001341620.1:p.Leu489Val
NP_001341621.1:p.Leu489Val
NP_001341622.1:p.Leu537Val
NP_001341623.1:p.Leu509Val
NP_001341624.1:p.Leu456Val
NP_002871.1:p.Leu570Val
NP_002871.1:p.Leu570Val
LRG_413t1:c.1708C>G
LRG_413t2:c.1768C>G
LRG_413:g.84238C>G
LRG_413p1:p.Leu570Val
LRG_413p2:p.Leu590Val
NC_000003.11:g.12626441G>C
NM_002880.3:c.1708C>G
NR_148940.3:n.2152C>G
NR_148941.3:n.2098C>G
NR_148942.3:n.2037C>G

Protein change:

L456V

Links:

dbSNP: rs876657966

NCBI 1000 Genomes Browser:

rs876657966

Molecular consequence:

NM_001354689.3:c.1768C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354690.3:c.1708C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354691.3:c.1465C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354692.3:c.1465C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354693.3:c.1609C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354694.3:c.1525C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354695.3:c.1366C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002880.4:c.1708C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_148940.3:n.2152C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148941.3:n.2098C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148942.3:n.2037C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000272342	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Apr 17, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000272342

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Apr 17, 2015)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000272342.3

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

Description

The p.Leu570Val variant in RAF1 has not been previously reported in individuals with clinical features Noonan syndrome or in large population studies. Computati onal prediction tools and conservation analysis do not provide strong support fo r or against an impact to the protein. In summary, the clinical significance of the p.Leu570Val variant is uncertain.

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

Last Updated: Oct 8, 2024

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