5-74685135-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001292004.2(HEXB):c.-376-4193C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.564 in 1,052,904 control chromosomes in the GnomAD database, including 169,446 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001292004.2 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: 0.550 AC: 83239AN: 151228Hom.: 23230 Cov.: 31
GnomAD4 exome AF: 0.567 AC: 511065AN: 901556Hom.: 146198 Cov.: 12 AF XY: 0.566 AC XY: 253380AN XY: 447706
GnomAD4 genome AF: 0.550 AC: 83292AN: 151348Hom.: 23248 Cov.: 31 AF XY: 0.549 AC XY: 40614AN XY: 73918
ClinVar
Submissions by phenotype
Sandhoff disease Benign:3
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not provided Benign:2
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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. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at