2-37359604-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_012413.4(QPCT):c.292C>T(p.Leu98Phe) variant causes a missense change. The variant allele was found at a frequency of 0.0000149 in 1,613,994 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_012413.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152150Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000399 AC: 10AN: 250454Hom.: 0 AF XY: 0.0000664 AC XY: 9AN XY: 135464
GnomAD4 exome AF: 0.0000157 AC: 23AN: 1461844Hom.: 0 Cov.: 31 AF XY: 0.0000275 AC XY: 20AN XY: 727218
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152150Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74330
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.292C>T (p.L98F) alteration is located in exon 3 (coding exon 3) of the QPCT gene. This alteration results from a C to T substitution at nucleotide position 292, causing the leucine (L) at amino acid position 98 to be replaced by a phenylalanine (F). 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