rs267607200
Variant summary
Our verdict is Likely pathogenic. Variant got 9 ACMG points: 9P and 0B. PM1PM2PM5PP2PP3PP5
The NM_001173464.2(KIF21A):c.2841G>A(p.Met947Ile) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. M947R) has been classified as Pathogenic.
Frequency
Consequence
NM_001173464.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KIF21A | NM_001173464.2 | c.2841G>A | p.Met947Ile | missense_variant | 20/38 | ENST00000361418.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KIF21A | ENST00000361418.10 | c.2841G>A | p.Met947Ile | missense_variant | 20/38 | 1 | NM_001173464.2 | A1 |
Frequencies
GnomAD3 genomes ? Cov.: 30
GnomAD4 exome Cov.: 33
GnomAD4 genome ? Cov.: 30
ClinVar
Submissions by phenotype
Fibrosis of extraocular muscles, congenital, 3b Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Jul 01, 2004 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at