17-74916849-T-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_173477.5(USH1G):c.*1224A>C variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.022 in 152,126 control chromosomes in the GnomAD database, including 103 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.*1224A>C | 3_prime_UTR_variant | Exon 3 of 3 | ENST00000614341.5 | NP_775748.2 | ||
USH1G | NM_001282489.3 | c.*1224A>C | 3_prime_UTR_variant | Exon 3 of 3 | NP_001269418.1 | |||
USH1G | XM_011524296.2 | c.*1224A>C | 3_prime_UTR_variant | Exon 3 of 3 | XP_011522598.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0219 AC: 3335AN: 152008Hom.: 102 Cov.: 33
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 442Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 332
GnomAD4 genome AF: 0.0220 AC: 3344AN: 152126Hom.: 103 Cov.: 33 AF XY: 0.0209 AC XY: 1551AN XY: 74388
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