chr10-71797186-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_022124.6(CDH23):āc.6795C>Gā(p.Ser2265Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,460,922 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. S2265S) has been classified as Likely benign.
Frequency
Consequence
NM_022124.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CDH23 | NM_022124.6 | c.6795C>G | p.Ser2265Arg | missense_variant | 49/70 | ENST00000224721.12 | |
CDH23 | NM_001171933.1 | c.75C>G | p.Ser25Arg | missense_variant | 2/23 | ||
CDH23 | NM_001171934.1 | c.75C>G | p.Ser25Arg | missense_variant | 2/22 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CDH23 | ENST00000224721.12 | c.6795C>G | p.Ser2265Arg | missense_variant | 49/70 | 5 | NM_022124.6 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000403 AC: 1AN: 248192Hom.: 0 AF XY: 0.00000743 AC XY: 1AN XY: 134650
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1460922Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 726684
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at