1-162500156-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_175866.5(UHMK1):c.470C>T(p.Ala157Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000248 in 1,614,030 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_175866.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UHMK1 | NM_175866.5 | c.470C>T | p.Ala157Val | missense_variant | Exon 2 of 8 | ENST00000489294.2 | NP_787062.1 | |
UHMK1 | NM_001184763.1 | c.248C>T | p.Ala83Val | missense_variant | Exon 2 of 8 | NP_001171692.1 | ||
UHMK1 | NM_144624.2 | c.470C>T | p.Ala157Val | missense_variant | Exon 2 of 7 | NP_653225.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UHMK1 | ENST00000489294.2 | c.470C>T | p.Ala157Val | missense_variant | Exon 2 of 8 | 1 | NM_175866.5 | ENSP00000420270.1 | ||
UHMK1 | ENST00000538489.5 | c.470C>T | p.Ala157Val | missense_variant | Exon 2 of 7 | 1 | ENSP00000446416.1 | |||
UHMK1 | ENST00000545294.5 | c.248C>T | p.Ala83Val | missense_variant | Exon 2 of 8 | 2 | ENSP00000441226.1 | |||
UHMK1 | ENST00000282169.8 | n.386C>T | non_coding_transcript_exon_variant | Exon 2 of 7 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152150Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000795 AC: 2AN: 251468Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135908
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461880Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 727240
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152150Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74324
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.470C>T (p.A157V) alteration is located in exon 2 (coding exon 2) of the UHMK1 gene. This alteration results from a C to T substitution at nucleotide position 470, causing the alanine (A) at amino acid position 157 to be replaced by a valine (V). 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