X-14009087-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.555G>A(p.Ser185Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000545 in 1,210,659 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 21 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.555G>A | p.Ser185Ser | synonymous_variant | Exon 5 of 5 | ENST00000680255.1 | NP_001035944.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000151 AC: 17AN: 112741Hom.: 0 Cov.: 23 AF XY: 0.000172 AC XY: 6AN XY: 34877
GnomAD3 exomes AF: 0.000136 AC: 25AN: 183369Hom.: 0 AF XY: 0.0000884 AC XY: 6AN XY: 67849
GnomAD4 exome AF: 0.0000446 AC: 49AN: 1097866Hom.: 0 Cov.: 30 AF XY: 0.0000413 AC XY: 15AN XY: 363226
GnomAD4 genome AF: 0.000151 AC: 17AN: 112793Hom.: 0 Cov.: 23 AF XY: 0.000172 AC XY: 6AN XY: 34939
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