rs386833985
Variant summary
Our verdict is Likely pathogenic. Variant got 7 ACMG points: 7P and 0B. PM2PP3_StrongPP5
The NM_007035.4(KERA):c.391A>G(p.Asn131Asp) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000031 in 1,611,138 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Likely pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. N131S) has been classified as Uncertain significance.
Frequency
Consequence
NM_007035.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KERA | NM_007035.4 | c.391A>G | p.Asn131Asp | missense_variant | 2/3 | ENST00000266719.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KERA | ENST00000266719.4 | c.391A>G | p.Asn131Asp | missense_variant | 2/3 | 1 | NM_007035.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000661 AC: 1AN: 151182Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 250176Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135256
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1459956Hom.: 0 Cov.: 33 AF XY: 0.00000275 AC XY: 2AN XY: 726300
GnomAD4 genome ? AF: 0.00000661 AC: 1AN: 151182Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 73806
ClinVar
Submissions by phenotype
Cornea plana 2 Pathogenic:1
Likely pathogenic, no assertion criteria provided | literature only | Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at