chr17-58308572-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_004758.4(TSPOAP1):c.4700C>T(p.Ala1567Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000206 in 1,555,324 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004758.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TSPOAP1 | NM_004758.4 | c.4700C>T | p.Ala1567Val | missense_variant | 22/32 | ENST00000343736.9 | NP_004749.2 | |
TSPOAP1 | NM_001261835.2 | c.4700C>T | p.Ala1567Val | missense_variant | 22/32 | NP_001248764.1 | ||
TSPOAP1 | NM_024418.3 | c.4520C>T | p.Ala1507Val | missense_variant | 21/31 | NP_077729.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TSPOAP1 | ENST00000343736.9 | c.4700C>T | p.Ala1567Val | missense_variant | 22/32 | 1 | NM_004758.4 | ENSP00000345824 | P2 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152210Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000429 AC: 9AN: 209840Hom.: 0 AF XY: 0.0000621 AC XY: 7AN XY: 112666
GnomAD4 exome AF: 0.0000214 AC: 30AN: 1403114Hom.: 0 Cov.: 31 AF XY: 0.0000232 AC XY: 16AN XY: 691046
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152210Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74360
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 17, 2021 | The c.4700C>T (p.A1567V) alteration is located in exon 22 (coding exon 22) of the TSPOAP1 gene. This alteration results from a C to T substitution at nucleotide position 4700, causing the alanine (A) at amino acid position 1567 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at