17-42953770-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001261434.2(AARSD1):c.962G>T(p.Gly321Val) variant causes a missense change. The variant allele was found at a frequency of 0.000146 in 1,614,038 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AARSD1 | NM_001261434.2 | c.962G>T | p.Gly321Val | missense_variant | Exon 10 of 12 | ENST00000427569.7 | NP_001248363.1 | |
PTGES3L-AARSD1 | NM_001136042.2 | c.1484G>T | p.Gly495Val | missense_variant | Exon 15 of 17 | NP_001129514.2 | ||
PTGES3L-AARSD1 | NM_025267.4 | c.1301G>T | p.Gly434Val | missense_variant | Exon 15 of 17 | NP_079543.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AARSD1 | ENST00000427569.7 | c.962G>T | p.Gly321Val | missense_variant | Exon 10 of 12 | 5 | NM_001261434.2 | ENSP00000400870.1 | ||
PTGES3L-AARSD1 | ENST00000421990.7 | c.1355G>T | p.Gly452Val | missense_variant | Exon 15 of 17 | 2 | ENSP00000409924.2 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152190Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000437 AC: 11AN: 251484Hom.: 0 AF XY: 0.0000515 AC XY: 7AN XY: 135916
GnomAD4 exome AF: 0.000157 AC: 229AN: 1461848Hom.: 0 Cov.: 30 AF XY: 0.000127 AC XY: 92AN XY: 727222
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152190Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74350
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1484G>T (p.G495V) alteration is located in exon 15 (coding exon 15) of the AARSD1 gene. This alteration results from a G to T substitution at nucleotide position 1484, causing the glycine (G) at amino acid position 495 to be replaced by a valine (V). 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