rs79531790
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_004990.4(MARS1):c.873C>G(p.Ala291Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000235 in 1,614,032 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 Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. A291A) has been classified as Benign.
Frequency
Consequence
NM_004990.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MARS1 | NM_004990.4 | c.873C>G | p.Ala291Ala | synonymous_variant | Exon 8 of 21 | ENST00000262027.10 | NP_004981.2 | |
MARS1 | XM_047428851.1 | c.171C>G | p.Ala57Ala | synonymous_variant | Exon 4 of 17 | XP_047284807.1 | ||
MARS1 | XM_047428852.1 | c.873C>G | p.Ala291Ala | synonymous_variant | Exon 8 of 15 | XP_047284808.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152118Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000318 AC: 8AN: 251458Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135904
GnomAD4 exome AF: 0.0000178 AC: 26AN: 1461796Hom.: 0 Cov.: 31 AF XY: 0.0000193 AC XY: 14AN XY: 727194
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152236Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74426
ClinVar
Submissions by phenotype
Charcot-Marie-Tooth disease axonal type 2U;C4225400:Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at