6-32843017-T-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_148919.4(PSMB8):c.220A>T(p.Thr74Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00312 in 1,613,054 control chromosomes in the GnomAD database, including 63 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Synonymous variant affecting the same amino acid position (i.e. T74T) has been classified as Likely benign.
Frequency
Consequence
NM_148919.4 missense
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: 0.00749 AC: 1140AN: 152150Hom.: 12 Cov.: 32
GnomAD3 exomes AF: 0.00450 AC: 1111AN: 246864Hom.: 18 AF XY: 0.00498 AC XY: 670AN XY: 134486
GnomAD4 exome AF: 0.00266 AC: 3888AN: 1460786Hom.: 51 Cov.: 33 AF XY: 0.00304 AC XY: 2209AN XY: 726708
GnomAD4 genome AF: 0.00748 AC: 1139AN: 152268Hom.: 12 Cov.: 32 AF XY: 0.00759 AC XY: 565AN XY: 74462
ClinVar
Submissions by phenotype
not provided Benign:2
PSMB8: PM5, BS1, BS2 -
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not specified Benign:1
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Proteasome-associated autoinflammatory syndrome 1 Benign:1
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. -
Proteosome-associated autoinflammatory syndrome Benign:1
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Autoinflammatory syndrome Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at