2-10043738-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003597.5(KLF11):c.22G>C(p.Gly8Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000145 in 1,382,242 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G8D) has been classified as Uncertain significance.
Frequency
Consequence
NM_003597.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KLF11 | NM_003597.5 | c.22G>C | p.Gly8Arg | missense_variant | 1/4 | ENST00000305883.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KLF11 | ENST00000305883.6 | c.22G>C | p.Gly8Arg | missense_variant | 1/4 | 1 | NM_003597.5 | A2 | |
KLF11 | ENST00000401510.5 | c.-10+667G>C | intron_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.00000670 AC: 1AN: 149272Hom.: 0 Cov.: 33
GnomAD4 exome AF: 8.11e-7 AC: 1AN: 1232970Hom.: 0 Cov.: 29 AF XY: 0.00000164 AC XY: 1AN XY: 608664
GnomAD4 genome ? AF: 0.00000670 AC: 1AN: 149272Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 72768
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Aug 20, 2015 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at