chr10-71695551-T-C
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Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_022124.6(CDH23):c.2397+26T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.672 in 1,532,188 control chromosomes in the GnomAD database, including 351,233 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Genomes: 𝑓 0.62 ( 30278 hom., cov: 35)
Exomes 𝑓: 0.68 ( 320955 hom. )
Consequence
CDH23
NM_022124.6 intron
NM_022124.6 intron
Scores
2
Clinical Significance
Conservation
PhyloP100: -4.83
Genes affected
CDH23 (HGNC:13733): (cadherin related 23) This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -20 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.84).
BP6
Variant 10-71695551-T-C is Benign according to our data. Variant chr10-71695551-T-C is described in ClinVar as [Benign]. Clinvar id is 261545.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr10-71695551-T-C is described in Lovd as [Benign].
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.706 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
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CDH23 | NM_022124.6 | c.2397+26T>C | intron_variant | ENST00000224721.12 | |||
CDH23 | NM_001171930.2 | c.2397+26T>C | intron_variant | ||||
CDH23 | NM_001171931.2 | c.2397+26T>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CDH23 | ENST00000224721.12 | c.2397+26T>C | intron_variant | 5 | NM_022124.6 | P1 |
Frequencies
GnomAD3 genomes AF: 0.625 AC: 95011AN: 152046Hom.: 30270 Cov.: 35
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GnomAD3 exomes AF: 0.628 AC: 155281AN: 247240Hom.: 50124 AF XY: 0.640 AC XY: 85924AN XY: 134152
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GnomAD4 exome AF: 0.678 AC: 934982AN: 1380024Hom.: 320955 Cov.: 22 AF XY: 0.679 AC XY: 469048AN XY: 690952
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GnomAD4 genome AF: 0.625 AC: 95050AN: 152164Hom.: 30278 Cov.: 35 AF XY: 0.617 AC XY: 45904AN XY: 74392
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ClinVar
Significance: Benign
Submissions summary: Benign:4
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | - | - - |
Usher syndrome type 1D Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Jul 01, 2021 | - - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jun 13, 2018 | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. - |
Autosomal recessive nonsyndromic hearing loss 12 Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Jul 01, 2021 | - - |
Computational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at