rs557460474
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_001171931.2(CDH23):c.3123C>T(p.Ser1041Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000342 in 1,592,926 control chromosomes in the GnomAD database, including 6 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001171931.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CDH23 | NM_022124.6 | c.3106+17C>T | intron_variant | Intron 26 of 69 | ENST00000224721.12 | NP_071407.4 | ||
CDH23 | NM_001171931.2 | c.3123C>T | p.Ser1041Ser | synonymous_variant | Exon 26 of 26 | NP_001165402.1 | ||
CDH23 | NM_001171930.2 | c.3106+17C>T | intron_variant | Intron 26 of 31 | NP_001165401.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000342 AC: 52AN: 152242Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000789 AC: 166AN: 210446Hom.: 3 AF XY: 0.000578 AC XY: 66AN XY: 114212
GnomAD4 exome AF: 0.000342 AC: 492AN: 1440566Hom.: 6 Cov.: 31 AF XY: 0.000299 AC XY: 214AN XY: 714628
GnomAD4 genome AF: 0.000341 AC: 52AN: 152360Hom.: 0 Cov.: 33 AF XY: 0.000430 AC XY: 32AN XY: 74500
ClinVar
Submissions by phenotype
not provided Benign:2
CDH23: BP4, BP7, BS1, BS2 -
- -
not specified Benign:1
p.Ser1041Ser in exon 26A of CDH23: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1.8% (63/3446) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac .broadinstitute.org; dbSNP rs557460474). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at