19-55027664-C-A
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001083899.2(GP6):c.524G>T(p.Ser175Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,556 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001083899.2 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 35
GnomAD2 exomes AF: 0.00000401 AC: 1AN: 249466 AF XY: 0.00000739 show subpopulations
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460556Hom.: 0 Cov.: 38 AF XY: 0.00000138 AC XY: 1AN XY: 726718 show subpopulations
Age Distribution
GnomAD4 genome Cov.: 35
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at