rs774657675
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_017802.4(DNAAF5):c.2490C>G(p.Ala830=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. A830A) has been classified as Likely benign.
Frequency
Consequence
NM_017802.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAAF5 | NM_017802.4 | c.2490C>G | p.Ala830= | synonymous_variant | 13/13 | ENST00000297440.11 | |
DNAAF5 | XM_024446813.2 | c.2298C>G | p.Ala766= | synonymous_variant | 12/12 | ||
DNAAF5 | NR_075098.2 | n.2450C>G | non_coding_transcript_exon_variant | 13/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAAF5 | ENST00000297440.11 | c.2490C>G | p.Ala830= | synonymous_variant | 13/13 | 1 | NM_017802.4 | P1 | |
DNAAF5 | ENST00000403952.3 | c.765C>G | p.Ala255= | synonymous_variant | 6/6 | 1 | |||
DNAAF5 | ENST00000440747.5 | c.1896C>G | p.Ala632= | synonymous_variant | 13/13 | 2 | |||
DNAAF5 | ENST00000461576.1 | downstream_gene_variant | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250830Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135748
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at