22-44131534-G-A
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_013327.5(PARVB):c.424G>A(p.Glu142Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00012 in 1,614,122 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 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: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000118 AC: 18AN: 152126Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.000119 AC: 30AN: 251392 AF XY: 0.000110 show subpopulations
GnomAD4 exome AF: 0.000120 AC: 176AN: 1461878Hom.: 0 Cov.: 31 AF XY: 0.000127 AC XY: 92AN XY: 727240 show subpopulations
GnomAD4 genome AF: 0.000118 AC: 18AN: 152244Hom.: 0 Cov.: 32 AF XY: 0.000107 AC XY: 8AN XY: 74440 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.523G>A (p.E175K) alteration is located in exon 6 (coding exon 6) of the PARVB gene. This alteration results from a G to A substitution at nucleotide position 523, causing the glutamic acid (E) at amino acid position 175 to be replaced by a lysine (K). 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