19-9757948-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001077624.3(ZNF846):c.1129C>T(p.Arg377Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000297 in 1,613,448 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001077624.3 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: 0.0000264 AC: 4AN: 151602Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000320 AC: 8AN: 250148Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135688
GnomAD4 exome AF: 0.0000301 AC: 44AN: 1461728Hom.: 0 Cov.: 33 AF XY: 0.0000289 AC XY: 21AN XY: 727166
GnomAD4 genome AF: 0.0000264 AC: 4AN: 151720Hom.: 0 Cov.: 32 AF XY: 0.0000270 AC XY: 2AN XY: 74182
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 15, 2021 | The c.1129C>T (p.R377C) alteration is located in exon 6 (coding exon 5) of the ZNF846 gene. This alteration results from a C to T substitution at nucleotide position 1129, causing the arginine (R) at amino acid position 377 to be replaced by a cysteine (C). 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