17-41084523-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_033061.4(KRTAP4-7):c.317A>T(p.Gln106Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000698 in 143,228 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_033061.4 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KRTAP4-7 | NM_033061.4 | c.317A>T | p.Gln106Leu | missense_variant | 1/1 | ENST00000391417.6 | NP_149050.3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000698 AC: 1AN: 143228Hom.: 0 Cov.: 23
GnomAD3 exomes AF: 0.0000206 AC: 5AN: 242946Hom.: 0 AF XY: 0.0000227 AC XY: 3AN XY: 132162
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000203 AC: 29AN: 1426778Hom.: 0 Cov.: 135 AF XY: 0.0000268 AC XY: 19AN XY: 709632
GnomAD4 genome AF: 0.00000698 AC: 1AN: 143228Hom.: 0 Cov.: 23 AF XY: 0.0000143 AC XY: 1AN XY: 69710
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 16, 2024 | The c.317A>T (p.Q106L) alteration is located in exon 1 (coding exon 1) of the KRTAP4-7 gene. This alteration results from a A to T substitution at nucleotide position 317, causing the glutamine (Q) at amino acid position 106 to be replaced by a leucine (L). 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