NM_002880.4(RAF1):c.769T>C (p.Ser257Pro) AND Primary familial hypertrophic cardiomyopathy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 7, 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:: RCV000208439.1

Allele description [Variation Report for NM_002880.4(RAF1):c.769T>C (p.Ser257Pro)]

NM_002880.4(RAF1):c.769T>C (p.Ser257Pro)

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.769T>C (p.Ser257Pro)

Other names:

p.S257P:TCG>CCG; NM_002880.3(RAF1):c.769T>C

HGVS:

NC_000003.12:g.12604201A>G
NG_007467.1:g.64979T>C
NM_001354689.3:c.769T>C
NM_001354690.3:c.769T>C
NM_001354691.3:c.526T>C
NM_001354692.3:c.526T>C
NM_001354693.3:c.670T>C
NM_001354694.3:c.526T>C
NM_001354695.3:c.427T>C
NM_002880.4:c.769T>CMANE SELECT
NP_001341618.1:p.Ser257Pro
NP_001341619.1:p.Ser257Pro
NP_001341620.1:p.Ser176Pro
NP_001341621.1:p.Ser176Pro
NP_001341622.1:p.Ser224Pro
NP_001341623.1:p.Ser176Pro
NP_001341624.1:p.Ser143Pro
NP_002871.1:p.Ser257Pro
NP_002871.1:p.Ser257Pro
LRG_413t1:c.769T>C
LRG_413t2:c.769T>C
LRG_413:g.64979T>C
LRG_413p1:p.Ser257Pro
LRG_413p2:p.Ser257Pro
NC_000003.11:g.12645700A>G
NM_002880.3:c.769T>C
NR_148940.3:n.1100T>C
NR_148941.3:n.1100T>C
NR_148942.3:n.1100T>C

Protein change:

S143P

Links:

dbSNP: rs727505017

NCBI 1000 Genomes Browser:

rs727505017

Molecular consequence:

NM_001354689.3:c.769T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354690.3:c.769T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354691.3:c.526T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354692.3:c.526T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354693.3:c.670T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354694.3:c.526T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354695.3:c.427T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002880.4:c.769T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_148940.3:n.1100T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148941.3:n.1100T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148942.3:n.1100T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Primary familial hypertrophic cardiomyopathy (HCM)
Synonyms:: Hereditary ventricular hypertrophy; Idiopathic hypertrophic subaortic stenosis
Identifiers:: MONDO: MONDO:0024573; MeSH: D024741; MedGen: C0949658; OMIM: PS192600

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LOC129597079 [Paramacrobiotus metropolitanus]
LOC129597079 [Paramacrobiotus metropolitanus]
Gene ID:129597079

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000264162	Blueprint Genetics	criteria provided, single submitter (Variant Classification)	Likely pathogenic (Apr 7, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000264162

Blueprint Genetics

criteria provided, single submitter

(Variant Classification)

Likely pathogenic
(Apr 7, 2015)

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 Blueprint Genetics, SCV000264162.2

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

Last Updated: Sep 29, 2024

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