chr3:12604200:G>C Detail (hg38) (RAF1)

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

Genome

Assembly	Position
hg19	chr3:12,645,699-12,645,699 View the variant detail on this assembly version.
hg38	chr3:12,604,200-12,604,200

HGVS

RAF1

Type	Transcript	Protein
RefSeq	NM_002880.3:c.770C>G	NP_002871.1:p.Ser257Trp
Ensemble	ENST00000251849.9:c.770C>G	ENST00000251849.9:p.Ser257Trp
	ENST00000442415.7:c.770C>G	ENST00000442415.7:p.Ser257Trp
	ENST00000685437.1:c.671C>G	ENST00000685437.1:p.Ser224Trp
	ENST00000685653.1:c.770C>G	ENST00000685653.1:p.Ser257Trp
	ENST00000687923.1:c.671C>G	ENST00000687923.1:p.Ser224Trp
	ENST00000688543.1:c.671C>G	ENST00000688543.1:p.Ser224Trp
	ENST00000689389.1:c.770C>G	ENST00000689389.1:p.Ser257Trp
	ENST00000690397.1:c.671C>G	ENST00000690397.1:p.Ser224Trp
	ENST00000690460.1:c.770C>G	ENST00000690460.1:p.Ser257Trp
	ENST00000691899.1:c.770C>G	ENST00000691899.1:p.Ser257Trp
	ENST00000692093.1:c.671C>G	ENST00000692093.1:p.Ser224Trp
	ENST00000693312.1:c.545C>G	ENST00000693312.1:p.Ser182Trp

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
Show details

Links

RAF1

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	COSM6096336	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2016-05-31	no assertion criteria provided	Malignant melanoma of skin	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	gastric adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Neoplasm of the large intestine	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	lung adenocarcinoma	somatic	Detail
Likely pathogenic	2023-12-04	criteria provided, single submitter	RASopathy	germline	Detail
Uncertain significance	2023-02-16	criteria provided, single submitter		germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.440	Noonan syndrome 5	NA	CLINVAR		Detail
0.384	Noonan syndrome	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.770C>G (p.Ser257Trp) AND Malignant melanoma of skin	ClinVar	Detail
NM_002880.4(RAF1):c.770C>G (p.Ser257Trp) AND Gastric adenocarcinoma	ClinVar	Detail
NM_002880.4(RAF1):c.770C>G (p.Ser257Trp) AND Neoplasm of the large intestine	ClinVar	Detail
NM_002880.4(RAF1):c.770C>G (p.Ser257Trp) AND Lung adenocarcinoma	ClinVar	Detail
NM_002880.4(RAF1):c.770C>G (p.Ser257Trp) AND RASopathy	ClinVar	Detail
NM_002880.4(RAF1):c.770C>G (p.Ser257Trp) AND Cardiovascular phenotype	ClinVar	Detail
NA	DisGeNET	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: rs80338796 dbSNP
Genome: hg38
Position: chr3:12,604,200-12,604,200
Variant Type: snv
Reference Allele: G
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8654
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121390
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.237910865804433E-6

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