1-37481718-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_025079.3(ZC3H12A):c.701A>G(p.Tyr234Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000291 in 1,614,126 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_025079.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZC3H12A | NM_025079.3 | c.701A>G | p.Tyr234Cys | missense_variant | 4/6 | ENST00000373087.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZC3H12A | ENST00000373087.7 | c.701A>G | p.Tyr234Cys | missense_variant | 4/6 | 1 | NM_025079.3 | P1 | |
ZC3H12A | ENST00000471012.1 | c.29A>G | p.Tyr10Cys | missense_variant | 1/2 | 3 | |||
ZC3H12A | ENST00000472312.1 | n.549A>G | non_coding_transcript_exon_variant | 2/2 | 2 | ||||
ZC3H12A | ENST00000640233.1 | c.701A>G | p.Tyr234Cys | missense_variant, NMD_transcript_variant | 4/6 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000394 AC: 6AN: 152236Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251492Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135922
GnomAD4 exome AF: 0.0000280 AC: 41AN: 1461890Hom.: 0 Cov.: 32 AF XY: 0.0000316 AC XY: 23AN XY: 727246
GnomAD4 genome ? AF: 0.0000394 AC: 6AN: 152236Hom.: 0 Cov.: 33 AF XY: 0.0000672 AC XY: 5AN XY: 74368
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 04, 2022 | The c.701A>G (p.Y234C) alteration is located in exon 4 (coding exon 3) of the ZC3H12A gene. This alteration results from a A to G substitution at nucleotide position 701, causing the tyrosine (Y) at amino acid position 234 to be replaced by a cysteine (C). 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