17-42954895-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001261434.2(AARSD1):c.934G>A(p.Gly312Ser) variant causes a missense 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. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001261434.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AARSD1 | NM_001261434.2 | c.934G>A | p.Gly312Ser | missense_variant | Exon 9 of 12 | ENST00000427569.7 | NP_001248363.1 | |
PTGES3L-AARSD1 | NM_001136042.2 | c.1456G>A | p.Gly486Ser | missense_variant | Exon 14 of 17 | NP_001129514.2 | ||
PTGES3L-AARSD1 | NM_025267.4 | c.1273G>A | p.Gly425Ser | missense_variant | Exon 14 of 17 | NP_079543.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AARSD1 | ENST00000427569.7 | c.934G>A | p.Gly312Ser | missense_variant | Exon 9 of 12 | 5 | NM_001261434.2 | ENSP00000400870.1 | ||
PTGES3L-AARSD1 | ENST00000421990.7 | c.1327G>A | p.Gly443Ser | missense_variant | Exon 14 of 17 | 2 | ENSP00000409924.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1456G>A (p.G486S) alteration is located in exon 14 (coding exon 14) of the AARSD1 gene. This alteration results from a G to A substitution at nucleotide position 1456, causing the glycine (G) at amino acid position 486 to be replaced by a serine (S). 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