17-74916770-G-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_173477.5(USH1G):c.*1303C>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 0.206 in 152,234 control chromosomes in the GnomAD database, including 3,313 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_173477.5 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 |
---|---|---|---|---|---|---|---|---|
USH1G | NM_173477.5 | c.*1303C>T | 3_prime_UTR_variant | Exon 3 of 3 | ENST00000614341.5 | NP_775748.2 | ||
USH1G | NM_001282489.3 | c.*1303C>T | 3_prime_UTR_variant | Exon 3 of 3 | NP_001269418.1 | |||
USH1G | XM_011524296.2 | c.*1303C>T | 3_prime_UTR_variant | Exon 3 of 3 | XP_011522598.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.207 AC: 31403AN: 151986Hom.: 3311 Cov.: 33
GnomAD4 exome AF: 0.254 AC: 33AN: 130Hom.: 5 Cov.: 0 AF XY: 0.233 AC XY: 20AN XY: 86
GnomAD4 genome AF: 0.206 AC: 31402AN: 152104Hom.: 3308 Cov.: 33 AF XY: 0.210 AC XY: 15593AN XY: 74352
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 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