NM_001177519.3:c.952_953insCT
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBA1
The NM_001177519.3(MICA):c.952_953insCT(p.Gly318AlafsTer69) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.248 in 1,199,206 control chromosomes in the GnomAD database, including 32,615 homozygotes. Variant has been reported in ClinVar as Benign (★). Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_001177519.3 frameshift
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MICA | NM_001177519.3 | c.952_953insCT | p.Gly318AlafsTer69 | frameshift_variant | Exon 5 of 6 | ENST00000449934.7 | NP_001170990.1 | |
MICA | NM_001289152.2 | c.661_662insCT | p.Gly221AlafsTer69 | frameshift_variant | Exon 5 of 6 | NP_001276081.1 | ||
MICA | NM_001289153.2 | c.661_662insCT | p.Gly221AlafsTer69 | frameshift_variant | Exon 5 of 6 | NP_001276082.1 | ||
MICA | NM_001289154.2 | c.538_539insCT | p.Gly180AlafsTer69 | frameshift_variant | Exon 5 of 6 | NP_001276083.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.267 AC: 32241AN: 120766Hom.: 4149 Cov.: 0
GnomAD4 exome AF: 0.246 AC: 265640AN: 1078356Hom.: 28459 Cov.: 35 AF XY: 0.250 AC XY: 133865AN XY: 534446
GnomAD4 genome AF: 0.267 AC: 32266AN: 120850Hom.: 4156 Cov.: 0 AF XY: 0.265 AC XY: 15567AN XY: 58734
ClinVar
Submissions by phenotype
not specified Benign:1
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: MAF -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at