rs59628511
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000371421.9(ARRDC1):c.*64G>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000408 in 1,422,414 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
ENST00000371421.9 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ARRDC1 | NM_152285.4 | c.*64G>A | 3_prime_UTR_variant | 8/8 | ENST00000371421.9 | NP_689498.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ARRDC1 | ENST00000371421.9 | c.*64G>A | 3_prime_UTR_variant | 8/8 | 1 | NM_152285.4 | ENSP00000360475 | P1 | ||
ARRDC1 | ENST00000475658.1 | n.696G>A | non_coding_transcript_exon_variant | 4/4 | 3 | |||||
ARRDC1 | ENST00000491911.5 | n.3028G>A | non_coding_transcript_exon_variant | 5/5 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152090Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.0000394 AC: 50AN: 1270324Hom.: 0 Cov.: 22 AF XY: 0.0000419 AC XY: 26AN XY: 620970
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152090Hom.: 0 Cov.: 33 AF XY: 0.0000673 AC XY: 5AN XY: 74306
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at