5-150618566-G-C
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001166208.2(SYNPO):āc.199G>Cā(p.Asp67His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000987 in 1,550,418 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001166208.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SYNPO | NM_001166208.2 | c.199G>C | p.Asp67His | missense_variant | Exon 2 of 3 | NP_001159680.1 | ||
SYNPO | NM_001166209.2 | c.199G>C | p.Asp67His | missense_variant | Exon 2 of 3 | NP_001159681.1 | ||
SYNPO | XM_006714755.4 | c.199G>C | p.Asp67His | missense_variant | Exon 2 of 4 | XP_006714818.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000473 AC: 72AN: 152088Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000130 AC: 20AN: 153396Hom.: 0 AF XY: 0.0000614 AC XY: 5AN XY: 81414
GnomAD4 exome AF: 0.0000579 AC: 81AN: 1398212Hom.: 1 Cov.: 32 AF XY: 0.0000551 AC XY: 38AN XY: 689424
GnomAD4 genome AF: 0.000473 AC: 72AN: 152206Hom.: 0 Cov.: 32 AF XY: 0.000430 AC XY: 32AN XY: 74418
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at