chr17-42951854-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001261434.2(AARSD1):c.1049G>T(p.Gly350Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000589 in 1,614,052 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G350A) has been classified as Likely benign.
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AARSD1 | NM_001261434.2 | c.1049G>T | p.Gly350Val | missense_variant | 11/12 | ENST00000427569.7 | |
PTGES3L-AARSD1 | NM_001136042.2 | c.1571G>T | p.Gly524Val | missense_variant | 16/17 | ||
PTGES3L-AARSD1 | NM_025267.4 | c.1388G>T | p.Gly463Val | missense_variant | 16/17 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AARSD1 | ENST00000427569.7 | c.1049G>T | p.Gly350Val | missense_variant | 11/12 | 5 | NM_001261434.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000920 AC: 14AN: 152184Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000716 AC: 18AN: 251408Hom.: 0 AF XY: 0.0000662 AC XY: 9AN XY: 135874
GnomAD4 exome AF: 0.0000554 AC: 81AN: 1461868Hom.: 0 Cov.: 31 AF XY: 0.0000536 AC XY: 39AN XY: 727240
GnomAD4 genome ? AF: 0.0000920 AC: 14AN: 152184Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74346
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 11, 2023 | The c.1571G>T (p.G524V) alteration is located in exon 16 (coding exon 16) of the AARSD1 gene. This alteration results from a G to T substitution at nucleotide position 1571, causing the glycine (G) at amino acid position 524 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