rs35337578
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 0P and 15B. BP4_StrongBP6_ModerateBP7BA1
The NM_005510.4(DXO):āc.744A>Gā(p.Pro248Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0872 in 1,612,802 control chromosomes in the GnomAD database, including 7,142 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ).
Frequency
Consequence
NM_005510.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DXO | NM_005510.4 | c.744A>G | p.Pro248Pro | synonymous_variant | Exon 4 of 7 | ENST00000337523.10 | NP_005501.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.101 AC: 15404AN: 151964Hom.: 874 Cov.: 32
GnomAD3 exomes AF: 0.0898 AC: 22155AN: 246806Hom.: 1259 AF XY: 0.0916 AC XY: 12322AN XY: 134448
GnomAD4 exome AF: 0.0858 AC: 125283AN: 1460720Hom.: 6273 Cov.: 34 AF XY: 0.0869 AC XY: 63141AN XY: 726676
GnomAD4 genome AF: 0.101 AC: 15407AN: 152082Hom.: 869 Cov.: 32 AF XY: 0.0997 AC XY: 7415AN XY: 74358
ClinVar
Submissions by phenotype
not specified Benign:1
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: MAF -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at