chr10-71707035-G-A
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 0P and 1B. BP4
The NM_022124.6(CDH23):c.3092G>A(p.Ser1031Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000826 in 1,453,118 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S1031T) has been classified as Uncertain significance.
Frequency
Consequence
NM_022124.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CDH23 | NM_022124.6 | c.3092G>A | p.Ser1031Asn | missense_variant | 26/70 | ENST00000224721.12 | |
CDH23 | NM_001171930.2 | c.3092G>A | p.Ser1031Asn | missense_variant | 26/32 | ||
CDH23 | NM_001171931.2 | c.3092G>A | p.Ser1031Asn | missense_variant | 26/26 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CDH23 | ENST00000224721.12 | c.3092G>A | p.Ser1031Asn | missense_variant | 26/70 | 5 | NM_022124.6 | P1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000388 AC: 9AN: 232202Hom.: 0 AF XY: 0.00000793 AC XY: 1AN XY: 126156
GnomAD4 exome AF: 0.00000826 AC: 12AN: 1453118Hom.: 0 Cov.: 31 AF XY: 0.00000277 AC XY: 2AN XY: 721962
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at