rs1555921926
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_144991.3(TSPEAR):āc.271G>Cā(p.Val91Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000693 in 1,442,442 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V91I) has been classified as Likely benign.
Frequency
Consequence
NM_144991.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TSPEAR | NM_144991.3 | c.271G>C | p.Val91Leu | missense_variant | 2/12 | ENST00000323084.9 | |
TSPEAR | NM_001272037.2 | c.67G>C | p.Val23Leu | missense_variant | 3/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TSPEAR | ENST00000323084.9 | c.271G>C | p.Val91Leu | missense_variant | 2/12 | 1 | NM_144991.3 | P1 | |
TSPEAR | ENST00000397916.1 | n.226G>C | non_coding_transcript_exon_variant | 2/11 | 1 | ||||
TSPEAR | ENST00000642437.1 | c.*216G>C | 3_prime_UTR_variant, NMD_transcript_variant | 3/13 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 6.93e-7 AC: 1AN: 1442442Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 715928
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at