chr3:12626123:G>C Detail (hg19) (RAF1, MKRN2)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr3:12,626,123-12,626,123
hg38	chr3:12,584,624-12,584,624 View the variant detail on this assembly version.

HGVS

MKRN2
RAF1

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000676541.1:c.*2371G>C
	ENST00000677142.1:c.*2371G>C

Type	Transcript	Protein
RefSeq	NM_002880.3:c.1837C>G	NP_002871.1:p.Leu613Val
Ensemble	ENST00000687923.1:c.1726C>G	ENST00000687923.1:p.Leu576Val
	ENST00000690460.1:c.1825C>G	ENST00000690460.1:p.Leu609Val
	ENST00000251849.9:c.1837C>G	ENST00000251849.9:p.Leu613Val
	ENST00000442415.7:c.1897C>G	ENST00000442415.7:p.Leu633Val
	ENST00000685437.1:c.1738C>G	ENST00000685437.1:p.Leu580Val
	ENST00000685653.1:c.1837C>G	ENST00000685653.1:p.Leu613Val
	ENST00000688543.1:c.1738C>G	ENST00000688543.1:p.Leu580Val
	ENST00000689389.1:c.1660C>G	ENST00000689389.1:p.Leu554Val
	ENST00000690397.1:c.1726C>G	ENST00000690397.1:p.Leu576Val
	ENST00000691899.1:c.1837C>G	ENST00000691899.1:p.Leu613Val
	ENST00000692093.1:c.1738C>G	ENST00000692093.1:p.Leu580Val
	ENST00000693312.1:c.1612C>G	ENST00000693312.1:p.Leu538Val

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	2
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

Links

MKRN2
RAF1

Type	Database	ID	Link
Gene	MIM	608426	OMIM
	HGNC	7113	HGNC
	Ensembl	ENSG00000075975	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM3714356	COSMIC
	MONDO

Type	Database	ID	Link
Gene	MIM	164760	OMIM
	HGNC	9829	HGNC
	Ensembl	ENSG00000132155	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM3714356	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000019 (TMGS000036)	Yoichi Matsubara	National Center for Child Health and Development
Pathogenic	2017/03/30	other	germline	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2007-08-01	no assertion criteria provided	LEOPARD syndrome 2	germline	Detail
Pathogenic Likely pathogenic	2019-05-31	no assertion criteria provided	Noonan syndrome 5	germline unknown	Detail
not provided		no assertion provided	Noonan syndrome with multiple lentigines	unknown	Detail
Pathogenic	2021-12-18	criteria provided, multiple submitters, no conflicts	RASopathy	germline	Detail
Pathogenic	2021-12-02	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2017-04-03	reviewed by expert panel	Noonan syndrome	germline somatic	Detail
Pathogenic	2013-03-26	criteria provided, single submitter	Noonan syndrome with multiple lentigines,Noonan syndrome	germline	Detail
Pathogenic	2013-03-26	criteria provided, single submitter	Noonan syndrome with multiple lentigines,Noonan syndrome	germline	Detail
Pathogenic	2019-12-30	criteria provided, single submitter	hypertrophic cardiomyopathy 1	germline	Detail
Pathogenic	2023-01-11	criteria provided, single submitter	RAF1-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.440	Noonan syndrome 5	NA	CLINVAR		Detail
0.360	LEOPARD syndrome 2	NA	CLINVAR		Detail
0.369	LEOPARD Syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val) AND LEOPARD syndrome 2	ClinVar	Detail
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val) AND Noonan syndrome 5	ClinVar	Detail
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val) AND Noonan syndrome with multiple lentigines	ClinVar	Detail
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val) AND RASopathy	ClinVar	Detail
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val) AND not provided	ClinVar	Detail
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val) AND Noonan syndrome	ClinVar	Detail
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val) AND multiple conditions	ClinVar	Detail
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val) AND multiple conditions	ClinVar	Detail
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val) AND Hypertrophic cardiomyopathy 1	ClinVar	Detail
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val) AND RAF1-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs80338797 dbSNP
Genome: hg19
Position: chr3:12,626,123-12,626,123
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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