5-176911380-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001199298.2(UIMC1):c.1607G>A(p.Arg536Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000101 in 1,582,768 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_001199298.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UIMC1 | NM_001199298.2 | c.1607G>A | p.Arg536Gln | missense_variant | Exon 11 of 15 | ENST00000511320.6 | NP_001186227.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UIMC1 | ENST00000511320.6 | c.1607G>A | p.Arg536Gln | missense_variant | Exon 11 of 15 | 1 | NM_001199298.2 | ENSP00000421926.1 | ||
UIMC1 | ENST00000506128.5 | c.1109G>A | p.Arg370Gln | missense_variant | Exon 11 of 15 | 1 | ENSP00000427480.1 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151670Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000207 AC: 5AN: 241916Hom.: 0 AF XY: 0.0000152 AC XY: 2AN XY: 131212
GnomAD4 exome AF: 0.00000978 AC: 14AN: 1431098Hom.: 0 Cov.: 30 AF XY: 0.0000127 AC XY: 9AN XY: 711164
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151670Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74056
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1607G>A (p.R536Q) alteration is located in exon 11 (coding exon 10) of the UIMC1 gene. This alteration results from a G to A substitution at nucleotide position 1607, causing the arginine (R) at amino acid position 536 to be replaced by a glutamine (Q). 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