rs35476458
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_003597.5(KLF11):c.1133C>G(p.Ser378Cys) variant causes a missense change. The variant allele was found at a frequency of 0.00000342 in 1,461,750 control chromosomes in the GnomAD database, including 1 homozygotes. 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. S378F) has been classified as Likely benign.
Frequency
Consequence
NM_003597.5 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KLF11 | NM_003597.5 | c.1133C>G | p.Ser378Cys | missense_variant | 3/4 | ENST00000305883.6 | |
KLF11 | NM_001177716.2 | c.1082C>G | p.Ser361Cys | missense_variant | 3/4 | ||
KLF11 | NM_001177718.2 | c.1082C>G | p.Ser361Cys | missense_variant | 3/4 | ||
KLF11 | XM_047446025.1 | c.1082C>G | p.Ser361Cys | missense_variant | 3/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KLF11 | ENST00000305883.6 | c.1133C>G | p.Ser378Cys | missense_variant | 3/4 | 1 | NM_003597.5 | A2 | |
KLF11 | ENST00000535335.1 | c.1082C>G | p.Ser361Cys | missense_variant | 3/4 | 2 | P4 | ||
KLF11 | ENST00000540845.5 | c.1082C>G | p.Ser361Cys | missense_variant | 3/4 | 2 | P4 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461750Hom.: 1 Cov.: 37 AF XY: 0.00000413 AC XY: 3AN XY: 727196
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at