13-73061963-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001730.5(KLF5):c.364C>A(p.Gln122Lys) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. 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. Q122P) has been classified as Uncertain significance.
Frequency
Consequence
NM_001730.5 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KLF5 | NM_001730.5 | c.364C>A | p.Gln122Lys | missense_variant | Exon 2 of 4 | ENST00000377687.6 | NP_001721.2 | |
KLF5 | NM_001286818.2 | c.91C>A | p.Gln31Lys | missense_variant | Exon 2 of 4 | NP_001273747.1 | ||
KLF5 | XM_047430553.1 | c.142C>A | p.Gln48Lys | missense_variant | Exon 2 of 4 | XP_047286509.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KLF5 | ENST00000377687.6 | c.364C>A | p.Gln122Lys | missense_variant | Exon 2 of 4 | 1 | NM_001730.5 | ENSP00000366915.4 | ||
KLF5 | ENST00000539231.5 | c.91C>A | p.Gln31Lys | missense_variant | Exon 2 of 4 | 1 | ENSP00000440407.1 | |||
KLF5 | ENST00000476859.1 | n.188C>A | non_coding_transcript_exon_variant | Exon 2 of 2 | 3 | |||||
KLF5 | ENST00000477333.5 | n.286C>A | non_coding_transcript_exon_variant | Exon 2 of 2 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.364C>A (p.Q122K) alteration is located in exon 2 (coding exon 2) of the KLF5 gene. This alteration results from a C to A substitution at nucleotide position 364, causing the glutamine (Q) at amino acid position 122 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.