rs749671
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP7BA1
The NM_014699.4(ZNF646):c.702G>A(p.Glu234=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.372 in 1,613,790 control chromosomes in the GnomAD database, including 123,514 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.32 ( 9819 hom., cov: 32)
Exomes 𝑓: 0.38 ( 113695 hom. )
Consequence
ZNF646
NM_014699.4 synonymous
NM_014699.4 synonymous
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.48
Genes affected
ZNF646 (HGNC:29004): (zinc finger protein 646) Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription, DNA-templated. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -13 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.61).
BP7
?
Synonymous conserved (PhyloP=1.48 with no splicing effect.
BA1
?
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.87 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF646 | NM_014699.4 | c.702G>A | p.Glu234= | synonymous_variant | 2/3 | ENST00000300850.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF646 | ENST00000300850.5 | c.702G>A | p.Glu234= | synonymous_variant | 2/3 | 1 | NM_014699.4 | P2 | |
ZNF646 | ENST00000394979.2 | c.702G>A | p.Glu234= | synonymous_variant | 1/1 | A2 | |||
ZNF646 | ENST00000428260.1 | c.702G>A | p.Glu234= | synonymous_variant | 2/2 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.316 AC: 48028AN: 152020Hom.: 9818 Cov.: 32
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GnomAD3 exomes AF: 0.394 AC: 98881AN: 250982Hom.: 23465 AF XY: 0.384 AC XY: 52106AN XY: 135696
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GnomAD4 exome AF: 0.377 AC: 551534AN: 1461652Hom.: 113695 Cov.: 70 AF XY: 0.373 AC XY: 271058AN XY: 727096
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GnomAD4 genome ? AF: 0.316 AC: 48026AN: 152138Hom.: 9819 Cov.: 32 AF XY: 0.318 AC XY: 23679AN XY: 74348
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Not reported inComputational scores
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Name
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BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
RBP_binding_hub_radar
RBP_regulation_power_radar
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at