chr7-44757391-C-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_031449.4(ZMIZ2):āc.382C>Gā(p.Pro128Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000567 in 1,600,798 control chromosomes in the GnomAD database, including 2 homozygotes. 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 (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P128L) has been classified as Uncertain significance.
Frequency
Consequence
NM_031449.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZMIZ2 | NM_031449.4 | c.382C>G | p.Pro128Ala | missense_variant | 5/19 | ENST00000309315.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZMIZ2 | ENST00000309315.9 | c.382C>G | p.Pro128Ala | missense_variant | 5/19 | 2 | NM_031449.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000309 AC: 47AN: 152194Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000252 AC: 59AN: 234078Hom.: 0 AF XY: 0.000209 AC XY: 27AN XY: 129378
GnomAD4 exome AF: 0.000594 AC: 861AN: 1448604Hom.: 2 Cov.: 33 AF XY: 0.000583 AC XY: 420AN XY: 721006
GnomAD4 genome AF: 0.000309 AC: 47AN: 152194Hom.: 0 Cov.: 32 AF XY: 0.000215 AC XY: 16AN XY: 74354
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 12, 2024 | The c.382C>G (p.P128A) alteration is located in exon 5 (coding exon 4) of the ZMIZ2 gene. This alteration results from a C to G substitution at nucleotide position 382, causing the proline (P) at amino acid position 128 to be replaced by an alanine (A). 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