6-31412384-G-GCTGCTGCTGCT
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBA1
The NM_001177519.3(MICA):c.952_953insCTGCTGCTGCT(p.Gly318AlafsTer72) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. 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
Genome browser will be placed here
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_953insCTGCTGCTGCT | p.Gly318AlafsTer72 | frameshift_variant | Exon 5 of 6 | ENST00000449934.7 | NP_001170990.1 | |
MICA | NM_001289152.2 | c.661_662insCTGCTGCTGCT | p.Gly221AlafsTer72 | frameshift_variant | Exon 5 of 6 | NP_001276081.1 | ||
MICA | NM_001289153.2 | c.661_662insCTGCTGCTGCT | p.Gly221AlafsTer72 | frameshift_variant | Exon 5 of 6 | NP_001276082.1 | ||
MICA | NM_001289154.2 | c.538_539insCTGCTGCTGCT | p.Gly180AlafsTer72 | frameshift_variant | Exon 5 of 6 | NP_001276083.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.277 AC: 33466AN: 120772Hom.: 4510 Cov.: 0
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.198 AC: 211320AN: 1069922Hom.: 19456 Cov.: 35 AF XY: 0.199 AC XY: 105189AN XY: 529734
GnomAD4 genome AF: 0.277 AC: 33509AN: 120856Hom.: 4518 Cov.: 0 AF XY: 0.285 AC XY: 16714AN XY: 58708
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: Not present in FAST (frequency). ExAC: 23.9% (9166/38406) total chromosomes -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at