NM_001102594.3:c.220C>A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_001102594.3(DTX2):c.220C>A(p.Pro74Thr) variant causes a missense change. The variant allele was found at a frequency of 0.00000616 in 1,460,848 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001102594.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DTX2 | NM_001102594.3 | c.220C>A | p.Pro74Thr | missense_variant | Exon 3 of 11 | ENST00000430490.7 | NP_001096064.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1460848Hom.: 0 Cov.: 31 AF XY: 0.00000826 AC XY: 6AN XY: 726700
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.220C>A (p.P74T) alteration is located in exon 4 (coding exon 1) of the DTX2 gene. This alteration results from a C to A substitution at nucleotide position 220, causing the proline (P) at amino acid position 74 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