5-176943355-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001199298.2(UIMC1):c.1577G>C(p.Gly526Ala) variant causes a missense change. The variant allele was found at a frequency of 0.0000118 in 1,613,904 control chromosomes in the GnomAD database, with no homozygous occurrence. 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.1577G>C | p.Gly526Ala | missense_variant | Exon 10 of 15 | ENST00000511320.6 | NP_001186227.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UIMC1 | ENST00000511320.6 | c.1577G>C | p.Gly526Ala | missense_variant | Exon 10 of 15 | 1 | NM_001199298.2 | ENSP00000421926.1 | ||
UIMC1 | ENST00000506128.5 | c.1079G>C | p.Gly360Ala | missense_variant | Exon 10 of 15 | 1 | ENSP00000427480.1 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152114Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000517 AC: 13AN: 251260Hom.: 0 AF XY: 0.0000663 AC XY: 9AN XY: 135794
GnomAD4 exome AF: 0.00000958 AC: 14AN: 1461790Hom.: 0 Cov.: 30 AF XY: 0.00000688 AC XY: 5AN XY: 727192
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152114Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74292
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1577G>C (p.G526A) alteration is located in exon 10 (coding exon 9) of the UIMC1 gene. This alteration results from a G to C substitution at nucleotide position 1577, causing the glycine (G) at amino acid position 526 to be replaced by an alanine (A). 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