17-74916961-G-A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_173477.5(USH1G):c.*1112C>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 0.0179 in 150,610 control chromosomes in the GnomAD database, including 79 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_173477.5 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
USH1G | NM_173477.5 | c.*1112C>T | 3_prime_UTR_variant | Exon 3 of 3 | ENST00000614341.5 | NP_775748.2 | ||
USH1G | NM_001282489.3 | c.*1112C>T | 3_prime_UTR_variant | Exon 3 of 3 | NP_001269418.1 | |||
USH1G | XM_011524296.2 | c.*1112C>T | 3_prime_UTR_variant | Exon 3 of 3 | XP_011522598.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0180 AC: 2690AN: 149566Hom.: 78 Cov.: 34
GnomAD4 exome AF: 0.00108 AC: 1AN: 924Hom.: 0 Cov.: 0 AF XY: 0.00152 AC XY: 1AN XY: 656
GnomAD4 genome AF: 0.0180 AC: 2693AN: 149686Hom.: 79 Cov.: 34 AF XY: 0.0172 AC XY: 1255AN XY: 72976
ClinVar
Submissions by phenotype
Usher syndrome type 1G 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at