rs1863703
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_015690.5(STK36):c.884A>G(p.Lys295Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.071 in 1,614,022 control chromosomes in the GnomAD database, including 7,694 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_015690.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
STK36 | NM_015690.5 | c.884A>G | p.Lys295Arg | missense_variant | 8/27 | ENST00000295709.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
STK36 | ENST00000295709.8 | c.884A>G | p.Lys295Arg | missense_variant | 8/27 | 1 | NM_015690.5 | P1 | |
STK36 | ENST00000392105.7 | c.884A>G | p.Lys295Arg | missense_variant | 8/27 | 1 | |||
STK36 | ENST00000440309.5 | c.884A>G | p.Lys295Arg | missense_variant | 8/27 | 5 | P1 | ||
STK36 | ENST00000424080.1 | downstream_gene_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.141 AC: 21481AN: 152018Hom.: 2839 Cov.: 32
GnomAD3 exomes AF: 0.0779 AC: 19566AN: 251286Hom.: 1514 AF XY: 0.0723 AC XY: 9812AN XY: 135806
GnomAD4 exome AF: 0.0636 AC: 93010AN: 1461886Hom.: 4843 Cov.: 32 AF XY: 0.0628 AC XY: 45665AN XY: 727246
GnomAD4 genome ? AF: 0.142 AC: 21544AN: 152136Hom.: 2851 Cov.: 32 AF XY: 0.137 AC XY: 10160AN XY: 74398
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | May 05, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at