rs10904481
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_053049.4(UCN3):c.271A>G(p.Arg91Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.322 in 1,608,508 control chromosomes in the GnomAD database, including 88,374 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_053049.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
UCN3 | NM_053049.4 | c.271A>G | p.Arg91Gly | missense_variant | 2/2 | ENST00000380433.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UCN3 | ENST00000380433.5 | c.271A>G | p.Arg91Gly | missense_variant | 2/2 | 1 | NM_053049.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.337 AC: 51084AN: 151518Hom.: 9035 Cov.: 29
GnomAD3 exomes AF: 0.371 AC: 88919AN: 239556Hom.: 17736 AF XY: 0.375 AC XY: 48666AN XY: 129654
GnomAD4 exome AF: 0.320 AC: 466224AN: 1456870Hom.: 79321 Cov.: 57 AF XY: 0.327 AC XY: 236607AN XY: 724348
GnomAD4 genome ? AF: 0.337 AC: 51145AN: 151638Hom.: 9053 Cov.: 29 AF XY: 0.346 AC XY: 25658AN XY: 74102
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at