rs530644820
Variant summary
Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2
The NM_020866.3(KLHL1):c.1891G>T(p.Ala631Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,461,284 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. A631T) has been classified as Uncertain significance.
Frequency
Consequence
NM_020866.3 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KLHL1 | NM_020866.3 | c.1891G>T | p.Ala631Ser | missense_variant | Exon 9 of 11 | ENST00000377844.9 | NP_065917.1 | |
KLHL1 | NM_001286725.2 | c.1708G>T | p.Ala570Ser | missense_variant | Exon 8 of 10 | NP_001273654.1 | ||
KLHL1 | XM_017020678.3 | c.1372G>T | p.Ala458Ser | missense_variant | Exon 9 of 11 | XP_016876167.1 | ||
KLHL1 | XM_017020679.2 | c.1222G>T | p.Ala408Ser | missense_variant | Exon 9 of 11 | XP_016876168.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD2 exomes AF: 0.00000398 AC: 1AN: 251010 AF XY: 0.00000737 show subpopulations
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461284Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726946 show subpopulations
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at