19-1428888-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018959.4(DAZAP1):c.593C>T(p.Pro198Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000589 in 1,612,878 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_018959.4 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 |
---|---|---|---|---|---|---|---|---|
DAZAP1 | NM_018959.4 | c.593C>T | p.Pro198Leu | missense_variant | Exon 8 of 12 | ENST00000233078.9 | NP_061832.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152140Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000642 AC: 16AN: 249302Hom.: 0 AF XY: 0.0000517 AC XY: 7AN XY: 135304
GnomAD4 exome AF: 0.0000596 AC: 87AN: 1460738Hom.: 0 Cov.: 30 AF XY: 0.0000633 AC XY: 46AN XY: 726706
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152140Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74352
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.593C>T (p.P198L) alteration is located in exon 8 (coding exon 8) of the DAZAP1 gene. This alteration results from a C to T substitution at nucleotide position 593, causing the proline (P) at amino acid position 198 to be replaced by a leucine (L). 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