17-74916891-GCACACA-GCACACACACACACA
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_173477.5(USH1G):c.*1174_*1181dupTGTGTGTG variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000066 in 151,478 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0000066 ( 0 hom., cov: 33)
Consequence
USH1G
NM_173477.5 3_prime_UTR
NM_173477.5 3_prime_UTR
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.909
Genes affected
USH1G (HGNC:16356): (USH1 protein network component sans) This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
USH1G | NM_173477.5 | c.*1174_*1181dupTGTGTGTG | 3_prime_UTR_variant | Exon 3 of 3 | ENST00000614341.5 | NP_775748.2 | ||
USH1G | NM_001282489.3 | c.*1174_*1181dupTGTGTGTG | 3_prime_UTR_variant | Exon 3 of 3 | NP_001269418.1 | |||
USH1G | XM_011524296.2 | c.*1174_*1181dupTGTGTGTG | 3_prime_UTR_variant | Exon 3 of 3 | XP_011522598.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000660 AC: 1AN: 151478Hom.: 0 Cov.: 33
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GnomAD4 genome AF: 0.00000660 AC: 1AN: 151478Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 73936
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ClinVar
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Find out detailed SpliceAI scores and Pangolin per-transcript scores at