1-155688278-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001198903.1(YY1AP1):c.187G>A(p.Val63Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000208 in 1,590,212 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001198903.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152218Hom.: 0 Cov.: 29
GnomAD3 exomes AF: 0.0000200 AC: 4AN: 199690Hom.: 0 AF XY: 0.00000912 AC XY: 1AN XY: 109606
GnomAD4 exome AF: 0.0000181 AC: 26AN: 1437876Hom.: 0 Cov.: 30 AF XY: 0.0000154 AC XY: 11AN XY: 713526
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152336Hom.: 0 Cov.: 29 AF XY: 0.0000403 AC XY: 3AN XY: 74500
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.187G>A (p.V63I) alteration is located in exon 1 (coding exon 1) of the YY1AP1 gene. This alteration results from a G to A substitution at nucleotide position 187, causing the valine (V) at amino acid position 63 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at