16-29806795-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_002383.4(MAZ):c.94C>T(p.Pro32Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000976 in 1,434,602 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_002383.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000675 AC: 1AN: 148082Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.0000130 AC: 2AN: 154420Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 88620
GnomAD4 exome AF: 0.0000101 AC: 13AN: 1286414Hom.: 0 Cov.: 32 AF XY: 0.00000625 AC XY: 4AN XY: 639774
GnomAD4 genome AF: 0.00000675 AC: 1AN: 148188Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 72246
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 11, 2024 | The c.94C>T (p.P32S) alteration is located in exon 1 (coding exon 1) of the MAZ gene. This alteration results from a C to T substitution at nucleotide position 94, causing the proline (P) at amino acid position 32 to be replaced by a serine (S). 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