rs121918131
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001102416.3(KNG1):āc.586C>Gā(p.Arg196Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,460,772 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 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 variant affecting the same amino acid position, but resulting in a different missense (i.e. R196Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_001102416.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KNG1 | NM_001102416.3 | c.586C>G | p.Arg196Gly | missense_variant | 5/10 | ENST00000644859.2 | |
KNG1 | NM_000893.4 | c.586C>G | p.Arg196Gly | missense_variant | 5/11 | ||
KNG1 | NM_001166451.2 | c.564+1998C>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KNG1 | ENST00000644859.2 | c.586C>G | p.Arg196Gly | missense_variant | 5/10 | NM_001102416.3 | |||
HRG-AS1 | ENST00000630178.2 | n.136-8689G>C | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251400Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135872
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460772Hom.: 0 Cov.: 29 AF XY: 0.00000138 AC XY: 1AN XY: 726800
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at