chr15-41380186-A-G
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP7BA1
The ENST00000559596.6(NUSAP1):āc.1326A>Gā(p.Ter442=) variant causes a stop retained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.234 in 1,554,700 control chromosomes in the GnomAD database, including 46,136 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
Consequence
ENST00000559596.6 stop_retained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NUSAP1 | NM_016359.5 | c.1326A>G | p.Ter442= | stop_retained_variant | 11/11 | ENST00000559596.6 | NP_057443.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NUSAP1 | ENST00000559596.6 | c.1326A>G | p.Ter442= | stop_retained_variant | 11/11 | 1 | NM_016359.5 | ENSP00000453403 | P4 |
Frequencies
GnomAD3 genomes AF: 0.185 AC: 28058AN: 151770Hom.: 3374 Cov.: 31
GnomAD3 exomes AF: 0.209 AC: 35540AN: 170256Hom.: 4365 AF XY: 0.212 AC XY: 19110AN XY: 90184
GnomAD4 exome AF: 0.239 AC: 335027AN: 1402812Hom.: 42764 Cov.: 28 AF XY: 0.238 AC XY: 165178AN XY: 693224
GnomAD4 genome AF: 0.185 AC: 28049AN: 151888Hom.: 3372 Cov.: 31 AF XY: 0.186 AC XY: 13797AN XY: 74170
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at