rs1566507420
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_018139.3(DNAAF2):c.2446G>T(p.Val816Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,828 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V816I) has been classified as Uncertain significance.
Frequency
Consequence
NM_018139.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAAF2 | NM_018139.3 | c.2446G>T | p.Val816Phe | missense_variant | Exon 3 of 3 | ENST00000298292.13 | NP_060609.2 | |
DNAAF2 | NM_001083908.2 | c.2302G>T | p.Val768Phe | missense_variant | Exon 2 of 2 | NP_001077377.1 | ||
DNAAF2 | NM_001378453.1 | c.235G>T | p.Val79Phe | missense_variant | Exon 2 of 2 | NP_001365382.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAAF2 | ENST00000298292.13 | c.2446G>T | p.Val816Phe | missense_variant | Exon 3 of 3 | 1 | NM_018139.3 | ENSP00000298292.8 | ||
DNAAF2 | ENST00000406043.3 | c.2302G>T | p.Val768Phe | missense_variant | Exon 2 of 2 | 1 | ENSP00000384862.3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460828Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 726616
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.