rs61759617
Variant summary
Our verdict is Benign. Variant got -18 ACMG points: 0P and 18B. BP4_ModerateBP6_Very_StrongBS1BS2
The NM_004985.5(KRAS):c.-122C>T variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000889 in 246,296 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_004985.5 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -18 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KRAS | NM_004985.5 | c.-122C>T | 5_prime_UTR_variant | Exon 1 of 5 | ENST00000311936.8 | NP_004976.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00131 AC: 199AN: 151402Hom.: 1 Cov.: 32
GnomAD4 exome AF: 0.000200 AC: 19AN: 94782Hom.: 0 Cov.: 0 AF XY: 0.000178 AC XY: 9AN XY: 50552
GnomAD4 genome AF: 0.00132 AC: 200AN: 151514Hom.: 1 Cov.: 32 AF XY: 0.00130 AC XY: 96AN XY: 74034
ClinVar
Submissions by phenotype
not specified Benign:1
This variant has been reported in dbSNP in 1/20 (5%) Black individuals (rs617596 17). In addition, this variant occurs in the 5' UTR of the gene and even though mutations in 5' UTRs of genes have been shown to affect gene regulation, no pat hogenic mutations in the 5' UTR of KRAS have been reported to date. Therefore, t his variant is not expected to have clinical significance. -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at