NM_005151.4:c.704C>A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 4P and 4B. PM1PM2BP4_Strong
The NM_005151.4(USP14):c.704C>A(p.Thr235Lys) variant causes a missense change. The variant allele was found at a frequency of 0.0000627 in 1,611,086 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005151.4 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: 0.000342 AC: 52AN: 152158Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000677 AC: 17AN: 251062Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135710
GnomAD4 exome AF: 0.0000336 AC: 49AN: 1458810Hom.: 0 Cov.: 30 AF XY: 0.0000207 AC XY: 15AN XY: 725670
GnomAD4 genome AF: 0.000341 AC: 52AN: 152276Hom.: 0 Cov.: 33 AF XY: 0.000282 AC XY: 21AN XY: 74462
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.704C>A (p.T235K) alteration is located in exon 9 (coding exon 9) of the USP14 gene. This alteration results from a C to A substitution at nucleotide position 704, causing the threonine (T) at amino acid position 235 to be replaced by a lysine (K). 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