chrX-30560084-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_025159.3(TASL):āc.272T>Cā(p.Val91Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000331 in 1,209,975 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 12/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_025159.3 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 |
---|---|---|---|---|---|---|---|
TASL | NM_025159.3 | c.272T>C | p.Val91Ala | missense_variant | 3/3 | ENST00000378962.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TASL | ENST00000378962.4 | c.272T>C | p.Val91Ala | missense_variant | 3/3 | 1 | NM_025159.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000178 AC: 2AN: 112297Hom.: 0 Cov.: 23 AF XY: 0.0000290 AC XY: 1AN XY: 34445
GnomAD3 exomes AF: 0.0000110 AC: 2AN: 182307Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 66841
GnomAD4 exome AF: 0.00000182 AC: 2AN: 1097678Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 363058
GnomAD4 genome AF: 0.0000178 AC: 2AN: 112297Hom.: 0 Cov.: 23 AF XY: 0.0000290 AC XY: 1AN XY: 34445
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 12, 2021 | The c.272T>C (p.V91A) alteration is located in exon 3 (coding exon 1) of the CXorf21 gene. This alteration results from a T to C substitution at nucleotide position 272, causing the valine (V) at amino acid position 91 to be replaced by an alanine (A). 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