17-58311725-G-A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_004758.4(TSPOAP1):c.2930-3C>T variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00155 in 1,556,318 control chromosomes in the GnomAD database, including 20 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_004758.4 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TSPOAP1 | NM_004758.4 | c.2930-3C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000343736.9 | |||
TSPOAP1 | NM_001261835.2 | c.2930-3C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ||||
TSPOAP1 | NM_024418.3 | c.2750-3C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TSPOAP1 | ENST00000343736.9 | c.2930-3C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_004758.4 | P2 | |||
TSPOAP1 | ENST00000268893.10 | c.2750-3C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | A2 | ||||
TSPOAP1 | ENST00000580669.6 | c.326-3C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 5 | |||||
TSPOAP1 | ENST00000585149.1 | n.98-3C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.00703 AC: 1070AN: 152228Hom.: 9 Cov.: 33
GnomAD3 exomes AF: 0.00256 AC: 527AN: 206186Hom.: 2 AF XY: 0.00197 AC XY: 217AN XY: 110368
GnomAD4 exome AF: 0.000959 AC: 1346AN: 1403972Hom.: 11 Cov.: 33 AF XY: 0.000842 AC XY: 582AN XY: 691430
GnomAD4 genome ? AF: 0.00703 AC: 1071AN: 152346Hom.: 9 Cov.: 33 AF XY: 0.00683 AC XY: 509AN XY: 74494
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 31, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at