X-10185076-A-T
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 5P and 6B. PM5PP2PP3_ModerateBP6_ModerateBS2
The NM_001830.4(CLCN4):c.44A>T(p.Asp15Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000365 in 1,095,777 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 2 hemizygotes in GnomAD. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D15N) has been classified as Likely pathogenic.
Frequency
Consequence
NM_001830.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD3 exomes AF: 0.0000165 AC: 3AN: 182360Hom.: 0 AF XY: 0.0000299 AC XY: 2AN XY: 66826
GnomAD4 exome AF: 0.00000365 AC: 4AN: 1095777Hom.: 0 Cov.: 29 AF XY: 0.00000554 AC XY: 2AN XY: 361215
GnomAD4 genome Cov.: 23
ClinVar
Submissions by phenotype
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at