rs780428813
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_153676.4(USH1C):c.1548G>T(p.Pro516=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000134 in 149,730 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P516P) has been classified as Likely benign.
Frequency
Consequence
NM_153676.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
USH1C | NM_153676.4 | c.1548G>T | p.Pro516= | synonymous_variant | 18/27 | ENST00000005226.12 | |
USH1C | NM_005709.4 | c.1284+7580G>T | intron_variant | ENST00000318024.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
USH1C | ENST00000005226.12 | c.1548G>T | p.Pro516= | synonymous_variant | 18/27 | 5 | NM_153676.4 | ||
USH1C | ENST00000318024.9 | c.1284+7580G>T | intron_variant | 1 | NM_005709.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000134 AC: 2AN: 149730Hom.: 0 Cov.: 31
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1416182Hom.: 0 Cov.: 37 AF XY: 0.00 AC XY: 0AN XY: 702494
GnomAD4 genome ? AF: 0.0000134 AC: 2AN: 149730Hom.: 0 Cov.: 31 AF XY: 0.0000137 AC XY: 1AN XY: 73022
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at