chr10-71797096-G-C
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000475158.1(CDH23):n.241G>C variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000691 in 1,446,260 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.
Frequency
Consequence
ENST00000475158.1 non_coding_transcript_exon
Scores
Clinical Significance
Conservation
Publications
- autosomal recessive nonsyndromic hearing loss 12Inheritance: AR Classification: DEFINITIVE, STRONG Submitted by: Labcorp Genetics (formerly Invitae), G2P, PanelApp Australia
- nonsyndromic genetic hearing lossInheritance: AR Classification: DEFINITIVE Submitted by: ClinGen
- Usher syndrome type 1Inheritance: AR Classification: DEFINITIVE, SUPPORTIVE Submitted by: ClinGen, Orphanet
- Usher syndrome type 1DInheritance: AR Classification: DEFINITIVE, STRONG Submitted by: G2P, Labcorp Genetics (formerly Invitae), PanelApp Australia
- hearing loss, autosomal recessiveInheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CDH23 | NM_022124.6 | c.6713-8G>C | splice_region_variant, intron_variant | Intron 48 of 69 | ENST00000224721.12 | NP_071407.4 | ||
CDH23 | NM_001171933.1 | c.-8-8G>C | splice_region_variant, intron_variant | Intron 1 of 22 | NP_001165404.1 | |||
CDH23 | NM_001171934.1 | c.-8-8G>C | splice_region_variant, intron_variant | Intron 1 of 21 | NP_001165405.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD2 exomes AF: 0.00000408 AC: 1AN: 245384 AF XY: 0.00000751 show subpopulations
GnomAD4 exome AF: 6.91e-7 AC: 1AN: 1446260Hom.: 0 Cov.: 27 AF XY: 0.00000139 AC XY: 1AN XY: 720016 show subpopulations
Age Distribution
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at