NM_024697.3:c.1036G>A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_024697.3(ZNF385D):c.1036G>A(p.Ala346Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0000155 in 1,612,808 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. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_024697.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152102Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000284 AC: 7AN: 246048Hom.: 0 AF XY: 0.0000374 AC XY: 5AN XY: 133560
GnomAD4 exome AF: 0.0000151 AC: 22AN: 1460706Hom.: 0 Cov.: 38 AF XY: 0.0000165 AC XY: 12AN XY: 726620
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152102Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74298
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1036G>A (p.A346T) alteration is located in exon 8 (coding exon 8) of the ZNF385D gene. This alteration results from a G to A substitution at nucleotide position 1036, causing the alanine (A) at amino acid position 346 to be replaced by a threonine (T). 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