NM_015465.5:c.3046C>T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBS1_SupportingBS2
The NM_015465.5(GEMIN5):c.3046C>T(p.Arg1016Cys) variant causes a missense change. The variant allele was found at a frequency of 0.00704 in 1,611,648 control chromosomes in the GnomAD database, including 58 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_015465.5 missense
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: 0.00454 AC: 691AN: 152180Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.00460 AC: 1149AN: 249516Hom.: 5 AF XY: 0.00463 AC XY: 624AN XY: 134888
GnomAD4 exome AF: 0.00730 AC: 10654AN: 1459350Hom.: 56 Cov.: 30 AF XY: 0.00709 AC XY: 5144AN XY: 725854
GnomAD4 genome AF: 0.00454 AC: 692AN: 152298Hom.: 2 Cov.: 32 AF XY: 0.00422 AC XY: 314AN XY: 74472
ClinVar
Submissions by phenotype
not provided Pathogenic:1Uncertain:2Benign:1
GEMIN5: BP4, BS2 -
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Published functional studies demonstrated reduced dimerization and ribosome association compared to wildtype (PMID: 35393353); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35295849, 35393353, 36980979, 16677673, 38316953) -
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at