chr19-45052872-C-T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP7BS2
The NM_007056.3(CLASRP):c.279C>T(p.Thr93Thr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00672 in 1,610,216 control chromosomes in the GnomAD database, including 54 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. Synonymous variant affecting the same amino acid position (i.e. T93T) has been classified as Likely benign.
Frequency
Consequence
NM_007056.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CLASRP | NM_007056.3 | c.279C>T | p.Thr93Thr | synonymous_variant | Exon 4 of 21 | ENST00000221455.8 | NP_008987.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CLASRP | ENST00000221455.8 | c.279C>T | p.Thr93Thr | synonymous_variant | Exon 4 of 21 | 1 | NM_007056.3 | ENSP00000221455.3 |
Frequencies
GnomAD3 genomes AF: 0.00563 AC: 855AN: 151964Hom.: 6 Cov.: 31
GnomAD3 exomes AF: 0.00532 AC: 1309AN: 245926Hom.: 8 AF XY: 0.00559 AC XY: 745AN XY: 133172
GnomAD4 exome AF: 0.00683 AC: 9958AN: 1458134Hom.: 48 Cov.: 31 AF XY: 0.00674 AC XY: 4891AN XY: 725524
GnomAD4 genome AF: 0.00562 AC: 855AN: 152082Hom.: 6 Cov.: 31 AF XY: 0.00542 AC XY: 403AN XY: 74352
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at