X-14020493-C-T
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_001042479.2(GEMIN8):c.57G>A(p.Pro19Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000391 in 1,201,763 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 15 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001042479.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GEMIN8 | NM_001042479.2 | c.57G>A | p.Pro19Pro | synonymous_variant | Exon 4 of 5 | ENST00000680255.1 | NP_001035944.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000357 AC: 4AN: 111928Hom.: 0 Cov.: 23 AF XY: 0.0000586 AC XY: 2AN XY: 34104
GnomAD3 exomes AF: 0.0000710 AC: 13AN: 183065Hom.: 0 AF XY: 0.0000592 AC XY: 4AN XY: 67563
GnomAD4 exome AF: 0.0000395 AC: 43AN: 1089785Hom.: 0 Cov.: 28 AF XY: 0.0000365 AC XY: 13AN XY: 355707
GnomAD4 genome AF: 0.0000357 AC: 4AN: 111978Hom.: 0 Cov.: 23 AF XY: 0.0000585 AC XY: 2AN XY: 34164
ClinVar
Submissions by phenotype
not provided Benign:1
GEMIN8: BP4, BP7, BS2 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at