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

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

Type Transcript Protein
RefSeq NM_002880.3:c.770C>T NP_002871.1:p.Ser257Leu
Ensemble ENST00000251849.9:c.770C>T ENST00000251849.9:p.Ser257Leu
ENST00000442415.7:c.770C>T ENST00000442415.7:p.Ser257Leu
Summary

MGeND

Clinical significance Pathogenic
Variant entry 3
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
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 COSM3586964 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2017/03/30 other germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
Pathogenic 2017/03/30 other germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
Pathogenic noonan syndrome unknown MGS000001
(TMGS000179) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2022-05-22 criteria provided, multiple submitters, no conflicts Noonan syndrome 5 de novo germline Detail
Pathogenic 2019-05-20 criteria provided, single submitter LEOPARD syndrome 2 germline unknown Detail
not provided no assertion provided Noonan syndrome with multiple lentigines unknown Detail
Pathogenic 2023-12-24 criteria provided, multiple submitters, no conflicts RASopathy germline unknown Detail
Pathogenic 2017-04-03 reviewed by expert panel Noonan syndrome germline somatic Detail
Pathogenic 2022-12-01 criteria provided, multiple submitters, no conflicts not provided de novo germline unknown Detail
Likely pathogenic 2016-05-31 no assertion criteria provided lung adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided gastric adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant melanoma of skin somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of the large intestine somatic Detail
Pathogenic 2021-07-01 criteria provided, single submitter LEOPARD syndrome 2,Noonan syndrome 5,dilated cardiomyopathy 1NN unknown Detail
Pathogenic 2021-07-01 criteria provided, single submitter LEOPARD syndrome 2,Noonan syndrome 5,dilated cardiomyopathy 1NN unknown Detail
Pathogenic 2021-07-01 criteria provided, single submitter LEOPARD syndrome 2,Noonan syndrome 5,dilated cardiomyopathy 1NN unknown Detail
Pathogenic 2013-05-23 criteria provided, single submitter Noonan syndrome with multiple lentigines,Noonan syndrome germline Detail
Pathogenic 2013-05-23 criteria provided, single submitter Noonan syndrome with multiple lentigines,Noonan syndrome germline Detail
Pathogenic criteria provided, single submitter Noonan syndrome 1 de novo unknown Detail
Pathogenic 2020-10-21 criteria provided, single submitter RAF1-related disorder germline Detail
Pathogenic 2021-04-26 criteria provided, single submitter Noonan syndrome and Noonan-related syndrome germline Detail
Pathogenic 2021-08-04 criteria provided, single submitter germline Detail
Pathogenic 2023-04-04 criteria provided, single submitter unknown 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

DescrptionSourceLinks
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) AND Noonan syndrome 5 ClinVar Detail
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) AND LEOPARD syndrome 2 ClinVar Detail
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) AND Noonan syndrome with multiple lentigines ClinVar Detail
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) AND RASopathy ClinVar Detail
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) AND Noonan syndrome ClinVar Detail
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) AND not provided ClinVar Detail
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) AND Lung adenocarcinoma ClinVar Detail
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) AND Gastric adenocarcinoma ClinVar Detail
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) AND Malignant melanoma of skin ClinVar Detail
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) AND Neoplasm of the large intestine ClinVar Detail
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) AND multiple conditions ClinVar Detail
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) AND multiple conditions ClinVar Detail
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) AND multiple conditions ClinVar Detail
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) AND multiple conditions ClinVar Detail
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) AND multiple conditions ClinVar Detail
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) AND Noonan syndrome 1 ClinVar Detail
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) AND RAF1-related disorder ClinVar Detail
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) AND Noonan syndrome and Noonan-related syndrome ClinVar Detail
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) AND Cardiovascular phenotype ClinVar Detail
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) AND See cases 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
A
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