3-43366660-T-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_018075.5(ANO10):c.*246A>G variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00878 in 577,122 control chromosomes in the GnomAD database, including 210 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_018075.5 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ANO10 | NM_018075.5 | c.*246A>G | 3_prime_UTR_variant | Exon 13 of 13 | ENST00000292246.8 | NP_060545.3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0244 AC: 3702AN: 151996Hom.: 161 Cov.: 32
GnomAD4 exome AF: 0.00319 AC: 1356AN: 425008Hom.: 48 Cov.: 3 AF XY: 0.00263 AC XY: 594AN XY: 225994
GnomAD4 genome AF: 0.0244 AC: 3709AN: 152114Hom.: 162 Cov.: 32 AF XY: 0.0234 AC XY: 1743AN XY: 74390
ClinVar
Submissions by phenotype
not provided Benign:2
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Autosomal recessive spinocerebellar ataxia 10 Benign:1
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at