NM_018115.4:c.1477G>T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018115.4(SDAD1):c.1477G>T(p.Asp493Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000162 in 1,606,552 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 (★).
Frequency
Consequence
NM_018115.4 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: 0.0000131 AC: 2AN: 152202Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000122 AC: 3AN: 245558Hom.: 0 AF XY: 0.0000151 AC XY: 2AN XY: 132726
GnomAD4 exome AF: 0.0000165 AC: 24AN: 1454232Hom.: 0 Cov.: 30 AF XY: 0.0000235 AC XY: 17AN XY: 723336
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152320Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74478
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1477G>T (p.D493Y) alteration is located in exon 17 (coding exon 17) of the SDAD1 gene. This alteration results from a G to T substitution at nucleotide position 1477, causing the aspartic acid (D) at amino acid position 493 to be replaced by a tyrosine (Y). 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