22-44093949-G-A
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.
The NM_013327.5(PARVB):c.134G>A(p.Gly45Asp) variant causes a missense change. The variant allele was found at a frequency of 0.0000775 in 1,613,544 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_013327.5 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000591 AC: 9AN: 152240Hom.: 0 Cov.: 33 show subpopulations
GnomAD2 exomes AF: 0.0000836 AC: 21AN: 251264 AF XY: 0.0000663 show subpopulations
GnomAD4 exome AF: 0.0000794 AC: 116AN: 1461304Hom.: 0 Cov.: 29 AF XY: 0.0000825 AC XY: 60AN XY: 727014 show subpopulations
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152240Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74376 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.233G>A (p.G78D) alteration is located in exon 3 (coding exon 3) of the PARVB gene. This alteration results from a G to A substitution at nucleotide position 233, causing the glycine (G) at amino acid position 78 to be replaced by an aspartic acid (D). 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