Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_001010881(C1orf167):c.3824G>A(p.Ser1275Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0012 in 152232 control chromosomes in the gnomAD Genomes database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Verdict is Likely_benign. Variant got -4 ACMG points.
GnomAD3 genomes AF: 0.00120AC: 182AN: 152232Hom.: 0Cov.: 33 GnomAD3 exomes AF: 0.00125AC: 185AN: 147914Hom.: 1 AF XY: 0.00119AC XY: 95AN XY: 79538 GnomAD4 exome AF: 0.00135AC: 1551AN: 1148882Hom.: 3 AF XY: 0.00135AC XY: 763AN XY: 563252
Submissions by phenotype
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
|Uncertain significance, criteria provided, single submitter||clinical testing||Baylor Genetics||Jun 11, 2018||This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. -|
Find out SpliceAI and Pangolin per-transcript scores at