chr11-17544301-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_153676.4(USH1C):c.7C>G(p.Arg3Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. R3R) has been classified as Likely benign.
Frequency
Consequence
NM_153676.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
USH1C | NM_153676.4 | c.7C>G | p.Arg3Gly | missense_variant | 1/27 | ENST00000005226.12 | |
USH1C | NM_005709.4 | c.7C>G | p.Arg3Gly | missense_variant | 1/21 | ENST00000318024.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
USH1C | ENST00000005226.12 | c.7C>G | p.Arg3Gly | missense_variant | 1/27 | 5 | NM_153676.4 | ||
USH1C | ENST00000318024.9 | c.7C>G | p.Arg3Gly | missense_variant | 1/21 | 1 | NM_005709.4 | P1 | |
USH1C | ENST00000527020.5 | c.7C>G | p.Arg3Gly | missense_variant | 1/20 | 1 | |||
USH1C | ENST00000526313.5 | c.7C>G | p.Arg3Gly | missense_variant, NMD_transcript_variant | 1/20 | 1 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at