chr12:25245345:C>T Detail (hg38) (KRAS)

Information

Genome

Assembly Position
hg19 chr12:25,398,279-25,398,279 View the variant detail on this assembly version.
hg38 chr12:25,245,345-25,245,345

HGVS

Type Transcript Protein
RefSeq NM_004985.4:c.40G>A NP_004976.2:p.Val14Ile
NM_033360.3:c.40G>A NP_203524.1:p.Val14Ile
Ensemble ENST00000256078.10:c.40G>A ENST00000256078.10:p.Val14Ile
Summary

MGeND

Clinical significance Likely pathogenic Pathogenic
Variant entry 3
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 Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 190070 OMIM
HGNC 6407 HGNC
Ensembl ENSG00000133703 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv377678985 TogoVar
COSMIC COSM1360883 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely pathogenic cardiofaciocutaneous syndrome germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
Pathogenic other germline MGS000073
(TMGS000145) 		Kenjiro Kosaki
 Keio University
IRUD
Pathogenic other germline MGS000073
(TMGS000155) 		Kenjiro Kosaki
 Keio University
IRUD
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2022-05-22 criteria provided, multiple submitters, no conflicts Noonan syndrome 3 de novo germline unknown Detail
not provided no assertion provided endometrial carcinoma somatic Detail
Pathogenic 2022-07-03 criteria provided, single submitter RASopathy germline Detail
Pathogenic 2022-08-01 criteria provided, multiple submitters, no conflicts not provided de novo germline unknown Detail
Pathogenic 2017-04-03 reviewed by expert panel Noonan syndrome germline Detail
Pathogenic 2014-05-06 criteria provided, single submitter Noonan syndrome,Cardio-facio-cutaneous syndrome germline Detail
Pathogenic 2014-05-06 criteria provided, single submitter Noonan syndrome,Cardio-facio-cutaneous syndrome germline Detail
Pathogenic 2018-11-05 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2018-07-01 criteria provided, single submitter Noonan syndrome and Noonan-related syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 Noonan syndrome 3 NA CLINVAR Detail
0.244 Cardio-facio-cutaneous syndrome We discovered de novo germline KRAS mutations that introduce V14I, T58I or D153V... BeFree 16474405 Detail
0.130 endometrial carcinoma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004985.5(KRAS):c.40G>A (p.Val14Ile) AND Noonan syndrome 3 ClinVar Detail
NM_004985.5(KRAS):c.40G>A (p.Val14Ile) AND Endometrial carcinoma ClinVar Detail
NM_004985.5(KRAS):c.40G>A (p.Val14Ile) AND RASopathy ClinVar Detail
NM_004985.5(KRAS):c.40G>A (p.Val14Ile) AND not provided ClinVar Detail
NM_004985.5(KRAS):c.40G>A (p.Val14Ile) AND Noonan syndrome ClinVar Detail
NM_004985.5(KRAS):c.40G>A (p.Val14Ile) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.40G>A (p.Val14Ile) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.40G>A (p.Val14Ile) AND Inborn genetic diseases ClinVar Detail
NM_004985.5(KRAS):c.40G>A (p.Val14Ile) AND Noonan syndrome and Noonan-related syndrome ClinVar Detail
NA DisGeNET Detail
We discovered de novo germline KRAS mutations that introduce V14I, T58I or D153V amino acid substitu... 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
rs104894365 dbSNP
Genome
hg38
Position
chr12:25,245,345-25,245,345
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8002
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)
101898
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)
9.813735303931383E-6
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