chr3:12705552:C>T Detail (hg19) (RAF1)

Information

Genome

Assembly Position
hg19 chr3:12,705,552-12,705,552
hg38 chr3:12,664,053-12,664,053 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_002880.3:c.-267G>A
Ensemble ENST00000251849.9:c.-267G>A
ENST00000442415.7:c.-267G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Benign
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 tgv11506225 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2011-11-17 criteria provided, single submitter not specified germline Detail
Likely benign 2018-01-13 criteria provided, single submitter Noonan syndrome 5 germline Detail
Benign 2018-01-13 criteria provided, single submitter LEOPARD syndrome 2 germline Detail
Benign 2019-07-25 reviewed by expert panel RASopathy germline Detail
Benign 2015-03-03 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_002880.4(RAF1):c.-267G>A AND not specified ClinVar Detail
NM_002880.4(RAF1):c.-267G>A AND Noonan syndrome 5 ClinVar Detail
NM_002880.4(RAF1):c.-267G>A AND LEOPARD syndrome 2 ClinVar Detail
NM_002880.4(RAF1):c.-267G>A AND RASopathy ClinVar Detail
NM_002880.4(RAF1):c.-267G>A AND not provided ClinVar 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
rs116247741 dbSNP
Genome
hg19
Position
chr3:12,705,552-12,705,552
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs116247741
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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