rs582736
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_130468.4(CHST14):c.*6G>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0884 in 1,589,784 control chromosomes in the GnomAD database, including 7,958 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_130468.4 3_prime_UTR
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: 0.135 AC: 20531AN: 152142Hom.: 1916 Cov.: 32
GnomAD3 exomes AF: 0.0980 AC: 22732AN: 231868Hom.: 1491 AF XY: 0.0969 AC XY: 12096AN XY: 124806
GnomAD4 exome AF: 0.0834 AC: 119885AN: 1437524Hom.: 6031 Cov.: 33 AF XY: 0.0848 AC XY: 60366AN XY: 712278
GnomAD4 genome AF: 0.135 AC: 20578AN: 152260Hom.: 1927 Cov.: 32 AF XY: 0.133 AC XY: 9900AN XY: 74446
ClinVar
Submissions by phenotype
not specified Benign:3
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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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not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at