14-88572080-C-G
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_024824.5(ZC3H14):c.286C>G(p.Pro96Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000204 in 1,614,100 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_024824.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZC3H14 | NM_024824.5 | c.286C>G | p.Pro96Ala | missense_variant | 5/17 | ENST00000251038.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZC3H14 | ENST00000251038.10 | c.286C>G | p.Pro96Ala | missense_variant | 5/17 | 1 | NM_024824.5 | P3 |
Frequencies
GnomAD3 genomes ? AF: 0.000296 AC: 45AN: 152102Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000592 AC: 149AN: 251494Hom.: 0 AF XY: 0.000537 AC XY: 73AN XY: 135922
GnomAD4 exome AF: 0.000195 AC: 285AN: 1461880Hom.: 0 Cov.: 31 AF XY: 0.000172 AC XY: 125AN XY: 727246
GnomAD4 genome ? AF: 0.000296 AC: 45AN: 152220Hom.: 0 Cov.: 32 AF XY: 0.000336 AC XY: 25AN XY: 74436
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Sep 25, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at