rs548188123
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_022124.6(CDH23):c.7651C>A(p.Pro2551Thr) variant causes a missense change. The variant allele was found at a frequency of 0.000000686 in 1,457,478 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P2551A) has been classified as Uncertain significance.
Frequency
Consequence
NM_022124.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CDH23 | NM_022124.6 | c.7651C>A | p.Pro2551Thr | missense_variant | 54/70 | ENST00000224721.12 | |
CDH23 | NM_001171933.1 | c.931C>A | p.Pro311Thr | missense_variant | 7/23 | ||
CDH23 | NM_001171934.1 | c.931C>A | p.Pro311Thr | missense_variant | 7/22 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CDH23 | ENST00000224721.12 | c.7651C>A | p.Pro2551Thr | missense_variant | 54/70 | 5 | NM_022124.6 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD3 exomes AF: 0.00000403 AC: 1AN: 248234Hom.: 0 AF XY: 0.00000743 AC XY: 1AN XY: 134612
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1457478Hom.: 0 Cov.: 38 AF XY: 0.00000138 AC XY: 1AN XY: 724142
GnomAD4 genome ? Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at