7-65960934-G-GCTA
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 1P and 10B. PM4_SupportingBP6_ModerateBS1BS2
The NM_000181.4(GUSB):c.1916_1918dupTAG(p.Val639dup) variant causes a conservative inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000843 in 1,613,954 control chromosomes in the GnomAD database, including 2 homozygotes. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_000181.4 conservative_inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152042Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000231 AC: 58AN: 251470Hom.: 1 AF XY: 0.000191 AC XY: 26AN XY: 135910
GnomAD4 exome AF: 0.0000821 AC: 120AN: 1461790Hom.: 2 Cov.: 38 AF XY: 0.0000770 AC XY: 56AN XY: 727204
GnomAD4 genome AF: 0.000105 AC: 16AN: 152164Hom.: 0 Cov.: 31 AF XY: 0.000108 AC XY: 8AN XY: 74378
ClinVar
Submissions by phenotype
Mucopolysaccharidosis type 7 Uncertain:1Benign:1
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GUSB-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at