rs121913240
Variant summary
Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PM1PM2PM5PP3_ModeratePP5_Moderate
The NM_004985.5(KRAS):c.182A>T(p.Gln61Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Q61H) has been classified as Likely pathogenic.
Frequency
Consequence
NM_004985.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KRAS | NM_033360.4 | c.182A>T | p.Gln61Leu | missense_variant | 3/6 | ENST00000256078.10 | NP_203524.1 | |
KRAS | NM_004985.5 | c.182A>T | p.Gln61Leu | missense_variant | 3/5 | ENST00000311936.8 | NP_004976.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KRAS | ENST00000256078.10 | c.182A>T | p.Gln61Leu | missense_variant | 3/6 | 1 | NM_033360.4 | ENSP00000256078 | A1 | |
KRAS | ENST00000311936.8 | c.182A>T | p.Gln61Leu | missense_variant | 3/5 | 1 | NM_004985.5 | ENSP00000308495 | P4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Non-small cell lung carcinoma Pathogenic:2
Pathogenic, no assertion criteria provided | literature only | Database of Curated Mutations (DoCM) | Oct 02, 2014 | - - |
Pathogenic, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Nov 02, 2011 | - - |
Multiple myeloma Pathogenic:1
Likely pathogenic, no assertion criteria provided | clinical testing | Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center | Aug 31, 2019 | - - |
Medullary thyroid carcinoma Pathogenic:1
Likely pathogenic, no assertion criteria provided | research | Genome Sciences Centre, British Columbia Cancer Agency | Sep 01, 2015 | - - |
Thyroid tumor Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | Database of Curated Mutations (DoCM) | Oct 02, 2014 | - - |
Neoplasm of the large intestine Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | Database of Curated Mutations (DoCM) | Jul 14, 2015 | - - |
Neoplasm Other:1
-, criteria provided, single submitter | clinical testing | Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital | Jul 31, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at