rs146429909
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP6_Very_StrongBS2
The NM_007250.5(KLF8):āc.322A>Gā(p.Ile108Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00629 in 1,209,391 control chromosomes in the GnomAD database, including 18 homozygotes. There are 2,499 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ).
Frequency
Consequence
NM_007250.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KLF8 | NM_007250.5 | c.322A>G | p.Ile108Val | missense_variant | 3/6 | ENST00000468660.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KLF8 | ENST00000468660.6 | c.322A>G | p.Ile108Val | missense_variant | 3/6 | 1 | NM_007250.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00376 AC: 419AN: 111446Hom.: 1 Cov.: 22 AF XY: 0.00404 AC XY: 136AN XY: 33654
GnomAD3 exomes AF: 0.00444 AC: 811AN: 182849Hom.: 1 AF XY: 0.00461 AC XY: 311AN XY: 67431
GnomAD4 exome AF: 0.00655 AC: 7189AN: 1097891Hom.: 17 Cov.: 31 AF XY: 0.00650 AC XY: 2363AN XY: 363275
GnomAD4 genome ? AF: 0.00376 AC: 419AN: 111500Hom.: 1 Cov.: 22 AF XY: 0.00403 AC XY: 136AN XY: 33718
ClinVar
Submissions by phenotype
not specified Benign:2
Benign, criteria provided, single submitter | clinical testing | Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia | Aug 19, 2015 | - - |
Benign, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Feb 20, 2017 | - - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 31, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at