rs758378987
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_198525.3(KIF7):c.2426G>T(p.Arg809Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000342 in 1,461,436 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. R809Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_198525.3 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KIF7 | NM_198525.3 | c.2426G>T | p.Arg809Leu | missense_variant | 12/19 | ENST00000394412.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KIF7 | ENST00000394412.8 | c.2426G>T | p.Arg809Leu | missense_variant | 12/19 | 5 | NM_198525.3 | P2 | |
KIF7 | ENST00000696512.1 | c.2549G>T | p.Arg850Leu | missense_variant | 12/19 | A2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 250998Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135714
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461436Hom.: 0 Cov.: 34 AF XY: 0.00000550 AC XY: 4AN XY: 727040
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at