chr12:25398282:C>A Detail (hg19) (KRAS)

Information

Genome

Assembly Position
hg19 chr12:25,398,282-25,398,282
hg38 chr12:25,245,348-25,245,348 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004985.4:c.37G>T NP_004976.2:p.Gly13Cys
NM_033360.3:c.37G>T NP_203524.1:p.Gly13Cys
Ensemble ENST00000256078.10:c.37G>T ENST00000256078.10:p.Gly13Cys
Summary

MGeND

Clinical significance Pathogenic not provided
Variant entry 37
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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
COSMIC COSM1152505 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2020/04/20 pyloric antrum not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 jejunum not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 ascending colon not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 descending colon not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 sigmoid colon not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 malignant neoplasm of rectosigmoid junction not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided Adenocarcinoma of lung (disorder) unknown MGS000021
(TMGS000080) 		Manabu Muto Kyoto University
Pathogenic 2020/04/20 ascending colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 sigmoid colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 colon, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 jejunum not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 descending colon not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 colon, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 malignant neoplasm of rectosigmoid junction not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 bronchus or lung, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2012-09-17 criteria provided, single submitter Non-small cell lung carcinoma somatic Detail
Pathogenic Likely pathogenic 2023-01-03 criteria provided, multiple submitters, no conflicts autoimmune lymphoproliferative syndrome type 4 germline somatic unknown Detail
Pathogenic 2015-07-14 no assertion criteria provided Neoplasm of the large intestine somatic Detail
Pathogenic 2022-09-21 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic criteria provided, single submitter KRAS-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.155 squamous cell carcinoma KRAS mutations were found in 18 (7.2%) patients (15 in adenocarcinoma, 2 in squa... BeFree 24040454 Detail
0.309 adenocarcinoma KRAS mutations were found in 18 (7.2%) patients (15 in adenocarcinoma, 2 in squa... BeFree 24040454 Detail
0.241 pilocytic astrocytoma NA CLINVAR Detail
0.149 Carcinogenesis This system allowed us to rapidly compare the ability of 12 different KRAS mutat... BeFree 25065594 Detail
0.240 RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER NA CLINVAR Detail
0.321 Non-small cell lung carcinoma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004985.5(KRAS):c.37G>T (p.Gly13Cys) AND Non-small cell lung carcinoma ClinVar Detail
NM_004985.5(KRAS):c.37G>T (p.Gly13Cys) AND Autoimmune lymphoproliferative syndrome type 4 ClinVar Detail
NM_004985.5(KRAS):c.37G>T (p.Gly13Cys) AND Neoplasm of the large intestine ClinVar Detail
NM_004985.5(KRAS):c.37G>T (p.Gly13Cys) AND not provided ClinVar Detail
NM_004985.5(KRAS):c.37G>T (p.Gly13Cys) AND KRAS-related disorder ClinVar Detail
KRAS mutations were found in 18 (7.2%) patients (15 in adenocarcinoma, 2 in squamous cell carcinoma ... DisGeNET Detail
KRAS mutations were found in 18 (7.2%) patients (15 in adenocarcinoma, 2 in squamous cell carcinoma ... DisGeNET Detail
NA DisGeNET Detail
This system allowed us to rapidly compare the ability of 12 different KRAS mutations (G12A, G12C, G1... 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
rs121913535 dbSNP
Genome
hg19
Position
chr12:25,398,282-25,398,282
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Variant (CIViC) (CIViC Variant)
G13C
Transcript 1 (CIViC Variant)
ENST00000256078.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/911
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