rs201093755
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_173484.4(KLF17):c.62C>A(p.Ala21Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000686 in 1,457,656 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. 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. A21V) has been classified as Likely benign.
Frequency
Consequence
NM_173484.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KLF17 | ENST00000372299.4 | c.62C>A | p.Ala21Glu | missense_variant | Exon 1 of 4 | 1 | NM_173484.4 | ENSP00000361373.3 | ||
KLF17 | ENST00000476802.1 | n.62C>A | non_coding_transcript_exon_variant | Exon 1 of 4 | 3 | ENSP00000489364.1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.00000416 AC: 1AN: 240220Hom.: 0 AF XY: 0.00000765 AC XY: 1AN XY: 130792
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1457656Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 724912
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at