19-58562301-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_198055.2(MZF1):c.1976G>A(p.Gly659Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000137 in 1,610,076 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_198055.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MZF1 | NM_198055.2 | c.1976G>A | p.Gly659Asp | missense_variant | Exon 6 of 6 | ENST00000215057.7 | NP_932172.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 151780Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000122 AC: 3AN: 245640Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 133446
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1458178Hom.: 0 Cov.: 31 AF XY: 0.0000152 AC XY: 11AN XY: 725400
GnomAD4 genome AF: 0.0000461 AC: 7AN: 151898Hom.: 0 Cov.: 34 AF XY: 0.0000539 AC XY: 4AN XY: 74242
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1976G>A (p.G659D) alteration is located in exon 6 (coding exon 5) of the MZF1 gene. This alteration results from a G to A substitution at nucleotide position 1976, causing the glycine (G) at amino acid position 659 to be replaced by an aspartic acid (D). 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