7-89333618-T-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_181646.5(ZNF804B):c.636T>G(p.Asn212Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000446 in 1,613,622 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_181646.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF804B | NM_181646.5 | c.636T>G | p.Asn212Lys | missense_variant | 4/4 | ENST00000333190.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF804B | ENST00000333190.5 | c.636T>G | p.Asn212Lys | missense_variant | 4/4 | 1 | NM_181646.5 | P1 | |
ZNF804B | ENST00000611114.1 | c.387T>G | p.Asn129Lys | missense_variant | 3/3 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.000217 AC: 33AN: 152064Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000639 AC: 16AN: 250484Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135450
GnomAD4 exome AF: 0.0000267 AC: 39AN: 1461440Hom.: 0 Cov.: 32 AF XY: 0.0000220 AC XY: 16AN XY: 727022
GnomAD4 genome ? AF: 0.000217 AC: 33AN: 152182Hom.: 0 Cov.: 32 AF XY: 0.000161 AC XY: 12AN XY: 74418
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 17, 2022 | The c.636T>G (p.N212K) alteration is located in exon 4 (coding exon 4) of the ZNF804B gene. This alteration results from a T to G substitution at nucleotide position 636, causing the asparagine (N) at amino acid position 212 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