Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_004287.5(GOSR2):c.200G>T(p.Arg67Ile) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R67K) has been classified as Benign.
GOSR2 (HGNC:4431): (golgi SNAP receptor complex member 2) This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficking function, this gene may be involved in familial essential hypertension. [provided by RefSeq, Mar 2016]
Verdict is Uncertain_significance. Variant got 1 ACMG points.
PM2
?
PM2 - Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium
Very rare variant in population databases, with high coverage;
BP4
?
BP4 - Multiple lines of computational evidence suggest no impact on gene or gene product (conservation, evolutionary, splicing impact, etc.)
Computational evidence support a benign effect (MetaRNN=0.37050533).
Loss of methylation at R67 (P = 0.0222);.;Loss of methylation at R67 (P = 0.0222);Loss of methylation at R67 (P = 0.0222);.;.;Loss of methylation at R67 (P = 0.0222);Loss of methylation at R67 (P = 0.0222);Loss of methylation at R67 (P = 0.0222);.;.;Loss of methylation at R67 (P = 0.0222);.;.;.;Loss of methylation at R67 (P = 0.0222);.;.;.;.;.;.;.;