NM_003363.4:c.2627C>T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_003363.4(USP4):c.2627C>T(p.Ala876Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000496 in 1,613,864 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A876D) has been classified as Uncertain significance.
Frequency
Consequence
NM_003363.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
USP4 | ENST00000265560.9 | c.2627C>T | p.Ala876Val | missense_variant | Exon 20 of 22 | 1 | NM_003363.4 | ENSP00000265560.4 | ||
USP4 | ENST00000351842.8 | c.2486C>T | p.Ala829Val | missense_variant | Exon 19 of 21 | 1 | ENSP00000341028.4 | |||
USP4 | ENST00000431357.1 | c.1841C>T | p.Ala614Val | missense_variant | Exon 14 of 15 | 5 | ENSP00000399079.1 | |||
USP4 | ENST00000485450.5 | n.3141C>T | non_coding_transcript_exon_variant | Exon 14 of 16 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152116Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251410Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135882
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461748Hom.: 0 Cov.: 30 AF XY: 0.00000550 AC XY: 4AN XY: 727192
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152116Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74322
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at