rs2256328
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000449934.7(MICA):c.*30-1152C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000658 in 151,908 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000449934.7 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MICA | NM_001177519.3 | c.*30-1152C>A | intron_variant | ENST00000449934.7 | NP_001170990.1 | |||
MICA | NM_001289152.2 | c.*30-1152C>A | intron_variant | NP_001276081.1 | ||||
MICA | NM_001289153.2 | c.*30-1152C>A | intron_variant | NP_001276082.1 | ||||
MICA | NM_001289154.2 | c.*30-1152C>A | intron_variant | NP_001276083.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MICA | ENST00000449934.7 | c.*30-1152C>A | intron_variant | 1 | NM_001177519.3 | ENSP00000413079 | P1 | |||
MICA | ENST00000421350.1 | c.*30-1152C>A | intron_variant | 5 | ENSP00000402410 | |||||
MICA | ENST00000616296.4 | c.*30-1152C>A | intron_variant | 5 | ENSP00000482382 | |||||
MICA | ENST00000674069.1 | c.*30-1152C>A | intron_variant | ENSP00000501157 |
Frequencies
GnomAD3 genomes AF: 0.00000659 AC: 1AN: 151788Hom.: 0 Cov.: 33
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151908Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74268
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.