NM_001278556.2:c.253-5delT
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001278556.2(ARPC3):c.253-5delT variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000954 in 807,002 control chromosomes in the GnomAD database, including 1 homozygotes. 1/1 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001278556.2 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ARPC3 | NM_001278556.2 | c.253-5delT | splice_region_variant, intron_variant | Intron 4 of 6 | ENST00000228825.12 | NP_001265485.1 | ||
ARPC3 | NM_001287222.2 | c.253-5delT | splice_region_variant, intron_variant | Intron 4 of 6 | NP_001274151.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000467 AC: 4AN: 85732Hom.: 0 Cov.: 0
GnomAD3 exomes AF: 0.0000762 AC: 10AN: 131236Hom.: 0 AF XY: 0.0000973 AC XY: 7AN XY: 71968
GnomAD4 exome AF: 0.000101 AC: 73AN: 721270Hom.: 1 Cov.: 24 AF XY: 0.000101 AC XY: 38AN XY: 374806
GnomAD4 genome AF: 0.0000467 AC: 4AN: 85732Hom.: 0 Cov.: 0 AF XY: 0.0000500 AC XY: 2AN XY: 39992
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at