17-42951854-C-G
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_001261434.2(AARSD1):c.1049G>C(p.Gly350Ala) variant causes a missense change. The variant allele was found at a frequency of 0.000367 in 1,614,170 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G350V) has been classified as Uncertain significance.
Frequency
Consequence
NM_001261434.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AARSD1 | NM_001261434.2 | c.1049G>C | p.Gly350Ala | missense_variant | 11/12 | ENST00000427569.7 | |
PTGES3L-AARSD1 | NM_001136042.2 | c.1571G>C | p.Gly524Ala | missense_variant | 16/17 | ||
PTGES3L-AARSD1 | NM_025267.4 | c.1388G>C | p.Gly463Ala | missense_variant | 16/17 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AARSD1 | ENST00000427569.7 | c.1049G>C | p.Gly350Ala | missense_variant | 11/12 | 5 | NM_001261434.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000250 AC: 38AN: 152184Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000266 AC: 67AN: 251408Hom.: 0 AF XY: 0.000243 AC XY: 33AN XY: 135874
GnomAD4 exome AF: 0.000380 AC: 555AN: 1461868Hom.: 0 Cov.: 31 AF XY: 0.000374 AC XY: 272AN XY: 727240
GnomAD4 genome ? AF: 0.000243 AC: 37AN: 152302Hom.: 0 Cov.: 32 AF XY: 0.000242 AC XY: 18AN XY: 74474
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 17, 2024 | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at