chr19-47066800-C-T
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_015168.2(ZC3H4):c.3468G>A(p.Ala1156=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000446 in 1,600,370 control chromosomes in the GnomAD database, including 10 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Genomes: 𝑓 0.00038 ( 1 hom., cov: 33)
Exomes 𝑓: 0.00045 ( 9 hom. )
Consequence
ZC3H4
NM_015168.2 synonymous
NM_015168.2 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: -8.52
Genes affected
ZC3H4 (HGNC:17808): (zinc finger CCCH-type containing 4) This gene encodes a member of a family of CCCH (C-x8-C-x5-C-x3-H type) zinc finger domain-containing proteins. These zinc finger domains, which coordinate zinc finger binding and are characterized by three cysteine residues and one histidine residue, are nucleic acid-binding. Other family members are known to function in post-transcriptional regulation. [provided by RefSeq, Aug 2011]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -11 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.85).
BP6
?
Variant 19-47066800-C-T is Benign according to our data. Variant chr19-47066800-C-T is described in ClinVar as [Likely_benign]. Clinvar id is 3051234.Status of the report is criteria_provided_single_submitter, 1 stars.
BP7
?
Synonymous conserved (PhyloP=-8.52 with no splicing effect.
BS2
?
High AC in GnomAd at 53 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZC3H4 | NM_015168.2 | c.3468G>A | p.Ala1156= | synonymous_variant | 15/15 | ENST00000253048.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZC3H4 | ENST00000253048.10 | c.3468G>A | p.Ala1156= | synonymous_variant | 15/15 | 1 | NM_015168.2 | P1 | |
ZC3H4 | ENST00000601973.1 | c.2289G>A | p.Ala763= | synonymous_variant | 8/8 | 5 | |||
ZC3H4 | ENST00000594019.5 | n.1318G>A | non_coding_transcript_exon_variant | 7/7 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.000348 AC: 53AN: 152248Hom.: 1 Cov.: 33
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GnomAD3 exomes AF: 0.000923 AC: 213AN: 230816Hom.: 2 AF XY: 0.00124 AC XY: 157AN XY: 126870
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GnomAD4 exome AF: 0.000452 AC: 655AN: 1448004Hom.: 9 Cov.: 33 AF XY: 0.000636 AC XY: 458AN XY: 720530
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ClinVar
Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
ZC3H4-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Jan 06, 2020 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
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Name
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BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at