chr16-10874479-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000572017.1(ENSG00000262151):n.439-9429A>G variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.336 in 152,020 control chromosomes in the GnomAD database, including 9,969 homozygotes. 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
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CIITA | XM_006720880.4 | c.346+7907T>C | intron_variant | ||||
CIITA | XM_011522484.4 | c.346+7907T>C | intron_variant | ||||
CIITA | XM_011522485.3 | c.346+7907T>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000572017.1 | n.439-9429A>G | intron_variant, non_coding_transcript_variant | 3 | ||||||
CIITA | ENST00000636238.1 | c.-21+8160T>C | intron_variant | 5 | |||||
CIITA | ENST00000637439.1 | c.283+7907T>C | intron_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.336 AC: 51030AN: 151902Hom.: 9958 Cov.: 32
GnomAD4 genome ? AF: 0.336 AC: 51065AN: 152020Hom.: 9969 Cov.: 32 AF XY: 0.346 AC XY: 25730AN XY: 74286
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at