3-119191082-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_006952.4(UPK1B):c.446C>T(p.Thr149Ile) variant causes a missense change. The variant allele was found at a frequency of 0.0000198 in 1,614,008 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006952.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152188Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000438 AC: 11AN: 251126Hom.: 0 AF XY: 0.0000663 AC XY: 9AN XY: 135682
GnomAD4 exome AF: 0.0000192 AC: 28AN: 1461702Hom.: 0 Cov.: 30 AF XY: 0.0000330 AC XY: 24AN XY: 727160
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152306Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74466
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.446C>T (p.T149I) alteration is located in exon 5 (coding exon 4) of the UPK1B gene. This alteration results from a C to T substitution at nucleotide position 446, causing the threonine (T) at amino acid position 149 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