chr19-52950238-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001202457.3(ZNF816):c.1537G>A(p.Glu513Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,846 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_001202457.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF816 | NM_001202457.3 | c.1537G>A | p.Glu513Lys | missense_variant | 4/4 | ENST00000444460.7 | NP_001189386.1 | |
ZNF816-ZNF321P | NM_001202473.2 | c.190+2513G>A | intron_variant | NP_001189402.1 | ||||
ZNF816 | NM_001031665.4 | c.1537G>A | p.Glu513Lys | missense_variant | 5/5 | NP_001026835.1 | ||
ZNF816 | NM_001202456.3 | c.1537G>A | p.Glu513Lys | missense_variant | 4/4 | NP_001189385.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF816 | ENST00000444460.7 | c.1537G>A | p.Glu513Lys | missense_variant | 4/4 | 1 | NM_001202457.3 | ENSP00000403266 | P1 | |
ZNF816 | ENST00000357666.8 | c.1537G>A | p.Glu513Lys | missense_variant | 5/5 | 1 | ENSP00000350295 | P1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461846Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727220
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 19, 2021 | The c.1537G>A (p.E513K) alteration is located in exon 5 (coding exon 3) of the ZNF816 gene. This alteration results from a G to A substitution at nucleotide position 1537, causing the glutamic acid (E) at amino acid position 513 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
Publications
No publications associated with this variant yet.