13-30646969-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_005800.5(USPL1):c.1150C>T(p.Pro384Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0377 in 1,613,702 control chromosomes in the GnomAD database, including 1,525 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. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_005800.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0264 AC: 4010AN: 152010Hom.: 96 Cov.: 32
GnomAD3 exomes AF: 0.0384 AC: 9654AN: 251166Hom.: 283 AF XY: 0.0426 AC XY: 5780AN XY: 135752
GnomAD4 exome AF: 0.0388 AC: 56768AN: 1461574Hom.: 1429 Cov.: 30 AF XY: 0.0406 AC XY: 29538AN XY: 727070
GnomAD4 genome AF: 0.0263 AC: 4008AN: 152128Hom.: 96 Cov.: 32 AF XY: 0.0268 AC XY: 1993AN XY: 74368
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at