16-10901993-G-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_000246.4(CIITA):c.482-45G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000048 in 1,459,832 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
NM_000246.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CIITA | NM_000246.4 | c.482-45G>C | intron_variant | Intron 6 of 19 | ENST00000324288.14 | NP_000237.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CIITA | ENST00000324288.14 | c.482-45G>C | intron_variant | Intron 6 of 19 | 1 | NM_000246.4 | ENSP00000316328.8 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.00000480 AC: 7AN: 1459832Hom.: 0 Cov.: 41 AF XY: 0.00000275 AC XY: 2AN XY: 726310
GnomAD4 genome Cov.: 31
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.