11-113743845-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004724.4(ZW10):c.1468G>A(p.Ala490Thr) variant causes a missense change. The variant allele was found at a frequency of 0.000191 in 1,613,946 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004724.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZW10 | ENST00000200135.8 | c.1468G>A | p.Ala490Thr | missense_variant | Exon 10 of 16 | 1 | NM_004724.4 | ENSP00000200135.3 | ||
ZW10 | ENST00000535142.5 | n.1468G>A | non_coding_transcript_exon_variant | Exon 10 of 16 | 2 | ENSP00000440879.1 |
Frequencies
GnomAD3 genomes AF: 0.0000592 AC: 9AN: 152102Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000119 AC: 30AN: 251470Hom.: 0 AF XY: 0.000147 AC XY: 20AN XY: 135908
GnomAD4 exome AF: 0.000205 AC: 300AN: 1461844Hom.: 1 Cov.: 31 AF XY: 0.000213 AC XY: 155AN XY: 727224
GnomAD4 genome AF: 0.0000592 AC: 9AN: 152102Hom.: 0 Cov.: 33 AF XY: 0.0000404 AC XY: 3AN XY: 74274
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1468G>A (p.A490T) alteration is located in exon 10 (coding exon 10) of the ZW10 gene. This alteration results from a G to A substitution at nucleotide position 1468, causing the alanine (A) at amino acid position 490 to be replaced by a threonine (T). 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