1-156243910-C-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_024897.4(PAQR6):c.1007G>T(p.Gly336Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000391 in 1,613,296 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_024897.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152202Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000918 AC: 23AN: 250574Hom.: 0 AF XY: 0.0000665 AC XY: 9AN XY: 135344
GnomAD4 exome AF: 0.0000376 AC: 55AN: 1460976Hom.: 0 Cov.: 30 AF XY: 0.0000358 AC XY: 26AN XY: 726698
GnomAD4 genome AF: 0.0000525 AC: 8AN: 152320Hom.: 0 Cov.: 33 AF XY: 0.0000671 AC XY: 5AN XY: 74472
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1007G>T (p.G336V) alteration is located in exon 7 (coding exon 5) of the PAQR6 gene. This alteration results from a G to T substitution at nucleotide position 1007, causing the glycine (G) at amino acid position 336 to be replaced by a valine (V). 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