19-56088463-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001002836.4(ZNF787):c.709G>A(p.Val237Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000835 in 1,317,448 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_001002836.4 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: 0.0000133 AC: 2AN: 149878Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000470 AC: 5AN: 10640Hom.: 0 AF XY: 0.000441 AC XY: 3AN XY: 6802
GnomAD4 exome AF: 0.00000771 AC: 9AN: 1167570Hom.: 0 Cov.: 33 AF XY: 0.0000106 AC XY: 6AN XY: 565538
GnomAD4 genome AF: 0.0000133 AC: 2AN: 149878Hom.: 0 Cov.: 32 AF XY: 0.0000137 AC XY: 1AN XY: 73174
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.709G>A (p.V237M) alteration is located in exon 3 (coding exon 2) of the ZNF787 gene. This alteration results from a G to A substitution at nucleotide position 709, causing the valine (V) at amino acid position 237 to be replaced by a methionine (M). 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