Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4_StrongBP7
The NM_001010881(C1orf167):c.3924C>T(p.His1308=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000236 in 152234 control chromosomes in the gnomAD Genomes database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Verdict is Likely_benign. Variant got -5 ACMG points.
GnomAD3 genomes AF: 0.000236AC: 36AN: 152234Hom.: 0Cov.: 33 GnomAD3 exomes AF: 0.000148AC: 22AN: 148972Hom.: 0 AF XY: 0.000162AC XY: 13AN XY: 80200 GnomAD4 exome AF: 0.000200AC: 230AN: 1151450Hom.: 0 AF XY: 0.000218AC XY: 123AN XY: 564492
Submissions by phenotype
Neural tube defects, folate-sensitive
|Uncertain significance, criteria provided, single submitter||clinical testing||Illumina Laboratory Services, Illumina||Jun 14, 2016||- -|
Find out detailed SpliceAI scores and Pangolin per-transcript scores at