2-26458018-G-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_194248.3(OTOF):c.*220C>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000635 in 1,606,202 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_194248.3 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00325 AC: 494AN: 152198Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.000766 AC: 188AN: 245518Hom.: 1 AF XY: 0.000558 AC XY: 74AN XY: 132730
GnomAD4 exome AF: 0.000362 AC: 527AN: 1453886Hom.: 3 Cov.: 30 AF XY: 0.000317 AC XY: 229AN XY: 722556
GnomAD4 genome AF: 0.00324 AC: 493AN: 152316Hom.: 1 Cov.: 33 AF XY: 0.00309 AC XY: 230AN XY: 74476
ClinVar
Submissions by phenotype
Autosomal recessive nonsyndromic hearing loss 9 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. -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at