chr15-31327576-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015995.4(KLF13):c.364T>G(p.Trp122Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000683 in 146,318 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015995.4 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 |
---|---|---|---|---|---|---|---|
KLF13 | NM_015995.4 | c.364T>G | p.Trp122Gly | missense_variant | 1/2 | ENST00000307145.4 | |
KLF13 | NM_001302461.2 | c.364T>G | p.Trp122Gly | missense_variant | 1/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KLF13 | ENST00000307145.4 | c.364T>G | p.Trp122Gly | missense_variant | 1/2 | 1 | NM_015995.4 | P1 | |
KLF13 | ENST00000558921.1 | n.10T>G | non_coding_transcript_exon_variant | 1/2 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.00000683 AC: 1AN: 146318Hom.: 0 Cov.: 32
GnomAD4 exome Cov.: 33
GnomAD4 genome ? AF: 0.00000683 AC: 1AN: 146318Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 71286
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 15, 2022 | The c.364T>G (p.W122G) alteration is located in exon 1 (coding exon 1) of the KLF13 gene. This alteration results from a T to G substitution at nucleotide position 364, causing the tryptophan (W) at amino acid position 122 to be replaced by a glycine (G). 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