10-71712825-G-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001164375.3(C10orf105):c.*3111C>G variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000687 in 1,455,886 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
Genomes: not found (cov: 33)
Exomes 𝑓: 6.9e-7 ( 0 hom. )
Consequence
C10orf105
NM_001164375.3 3_prime_UTR
NM_001164375.3 3_prime_UTR
Scores
2
Splicing: ADA: 0.0002930
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.16
Genes affected
C10orf105 (HGNC:20304): (chromosome 10 open reading frame 105) Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
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 Likely_benign. Variant got -2 ACMG points.
PM2
?
Very rare variant in population databases, with high coverage;
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.87).
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
C10orf105 | NM_001164375.3 | c.*3111C>G | 3_prime_UTR_variant | 2/2 | ENST00000441508.4 | ||
CDH23 | NM_022124.6 | c.3369+12G>C | intron_variant | ENST00000224721.12 | |||
C10orf105 | NM_001168390.2 | c.*3111C>G | 3_prime_UTR_variant | 2/2 | |||
CDH23 | NM_001171930.2 | c.3369+12G>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
C10orf105 | ENST00000441508.4 | c.*3111C>G | 3_prime_UTR_variant | 2/2 | 1 | NM_001164375.3 | P1 | ||
CDH23 | ENST00000224721.12 | c.3369+12G>C | intron_variant | 5 | NM_022124.6 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 genomes
?
Cov.:
33
GnomAD3 exomes AF: 0.00000426 AC: 1AN: 234600Hom.: 0 AF XY: 0.00000782 AC XY: 1AN XY: 127856
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GnomAD4 exome AF: 6.87e-7 AC: 1AN: 1455886Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 723650
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GnomAD4 genome ? Cov.: 33
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Bravo
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ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
Name
Calibrated prediction
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dbscSNV1_ADA
Benign
dbscSNV1_RF
Benign
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at