chr19-44217826-A-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_182490.3(ZNF227):āc.34A>Cā(p.Lys12Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000297 in 1,614,220 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_182490.3 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF227 | NM_182490.3 | c.34A>C | p.Lys12Gln | missense_variant | 3/6 | ENST00000313040.12 | NP_872296.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF227 | ENST00000313040.12 | c.34A>C | p.Lys12Gln | missense_variant | 3/6 | 1 | NM_182490.3 | ENSP00000321049 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152224Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000155 AC: 39AN: 251478Hom.: 0 AF XY: 0.000147 AC XY: 20AN XY: 135914
GnomAD4 exome AF: 0.000321 AC: 469AN: 1461878Hom.: 0 Cov.: 31 AF XY: 0.000305 AC XY: 222AN XY: 727240
GnomAD4 genome AF: 0.0000722 AC: 11AN: 152342Hom.: 0 Cov.: 33 AF XY: 0.0000806 AC XY: 6AN XY: 74486
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 16, 2022 | The c.34A>C (p.K12Q) alteration is located in exon 3 (coding exon 1) of the ZNF227 gene. This alteration results from a A to C substitution at nucleotide position 34, causing the lysine (K) at amino acid position 12 to be replaced by a glutamine (Q). 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