rs747305220
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_152366.5(KLHDC9):c.86C>A(p.Ala29Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000687 in 1,456,332 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. A29V) has been classified as Uncertain significance.
Frequency
Consequence
NM_152366.5 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 |
---|---|---|---|---|---|---|---|---|
KLHDC9 | NM_152366.5 | c.86C>A | p.Ala29Asp | missense_variant | Exon 1 of 4 | ENST00000368011.9 | NP_689579.3 | |
KLHDC9 | NM_001007255.3 | c.86C>A | p.Ala29Asp | missense_variant | Exon 1 of 4 | NP_001007256.1 | ||
KLHDC9 | NR_033385.2 | n.45-45C>A | intron_variant | Intron 1 of 4 | ||||
KLHDC9 | NR_033386.2 | n.45-45C>A | intron_variant | Intron 1 of 4 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.87e-7 AC: 1AN: 1456332Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 724124
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.