16-30582735-C-A
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_152458.7(ZNF785):c.1043G>T(p.Gly348Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000287 in 1,611,106 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G348D) has been classified as Uncertain significance.
Frequency
Consequence
NM_152458.7 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF785 | NM_152458.7 | c.1043G>T | p.Gly348Val | missense_variant | 3/3 | ENST00000395216.3 | |
ZNF785 | XM_011545753.3 | c.1082G>T | p.Gly361Val | missense_variant | 3/4 | ||
ZNF785 | XM_017022967.3 | c.1043G>T | p.Gly348Val | missense_variant | 3/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF785 | ENST00000395216.3 | c.1043G>T | p.Gly348Val | missense_variant | 3/3 | 1 | NM_152458.7 | P2 | |
ENST00000492040.1 | n.363C>A | non_coding_transcript_exon_variant | 2/2 | 1 |
Frequencies
GnomAD3 genomes AF: 0.000204 AC: 31AN: 152260Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000425 AC: 106AN: 249150Hom.: 2 AF XY: 0.000490 AC XY: 66AN XY: 134648
GnomAD4 exome AF: 0.000298 AC: 435AN: 1458728Hom.: 3 Cov.: 30 AF XY: 0.000365 AC XY: 265AN XY: 725276
GnomAD4 genome AF: 0.000184 AC: 28AN: 152378Hom.: 0 Cov.: 33 AF XY: 0.000148 AC XY: 11AN XY: 74504
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 11, 2023 | The c.1043G>T (p.G348V) alteration is located in exon 3 (coding exon 3) of the ZNF785 gene. This alteration results from a G to T substitution at nucleotide position 1043, causing the glycine (G) at amino acid position 348 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