rs143437511
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBP7BS2
The NM_001830.4(CLCN4):c.1758G>A(p.Val586Val) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00422 in 1,210,610 control chromosomes in the GnomAD database, including 10 homozygotes. There are 1,621 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001830.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -17 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00275 AC: 310AN: 112572Hom.: 0 Cov.: 24 AF XY: 0.00228 AC XY: 79AN XY: 34722
GnomAD3 exomes AF: 0.00290 AC: 530AN: 182910Hom.: 1 AF XY: 0.00300 AC XY: 202AN XY: 67426
GnomAD4 exome AF: 0.00437 AC: 4793AN: 1097983Hom.: 10 Cov.: 31 AF XY: 0.00424 AC XY: 1541AN XY: 363345
GnomAD4 genome AF: 0.00276 AC: 311AN: 112627Hom.: 0 Cov.: 24 AF XY: 0.00230 AC XY: 80AN XY: 34787
ClinVar
Submissions by phenotype
not provided Benign:3
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not specified Benign:1
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Intellectual disability, X-linked 49 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at