rs211043
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_178335.3(CCDC50):c.1242+10G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.49 in 1,601,236 control chromosomes in the GnomAD database, including 198,106 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_178335.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.578 AC: 87672AN: 151792Hom.: 26994 Cov.: 32
GnomAD3 exomes AF: 0.534 AC: 127772AN: 239112Hom.: 35125 AF XY: 0.522 AC XY: 67586AN XY: 129522
GnomAD4 exome AF: 0.481 AC: 696616AN: 1449326Hom.: 171058 Cov.: 30 AF XY: 0.480 AC XY: 345885AN XY: 720928
GnomAD4 genome AF: 0.578 AC: 87781AN: 151910Hom.: 27048 Cov.: 32 AF XY: 0.578 AC XY: 42880AN XY: 74212
ClinVar
Submissions by phenotype
not specified Benign:3
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. -
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1242+10G>A in Intron 09 of CCDC50: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus se quence and has been identified in 46.1% (3234/7016) of European American chromos omes from a broad population by the NHLBI Exome Sequencing Project (http://evs.g s.washington.edu/EVS; dbSNP rs211043). -
not provided Benign:2
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Autosomal dominant nonsyndromic hearing loss 44 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at