chr9-107487340-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004235.6(KLF4):c.1054C>G(p.Leu352Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004235.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KLF4 | NM_004235.6 | c.1054C>G | p.Leu352Val | missense_variant | 3/5 | ENST00000374672.5 | |
KLF4 | NM_001314052.2 | c.1054C>G | p.Leu352Val | missense_variant | 3/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KLF4 | ENST00000374672.5 | c.1054C>G | p.Leu352Val | missense_variant | 3/5 | 1 | NM_004235.6 | P1 | |
KLF4 | ENST00000493306.1 | n.1319C>G | non_coding_transcript_exon_variant | 3/4 | 1 | ||||
KLF4 | ENST00000610832.1 | c.100-150C>G | intron_variant | 5 | |||||
KLF4 | ENST00000497048.5 | n.1108C>G | non_coding_transcript_exon_variant | 1/3 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.