rs113155624
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_006567.5(FARS2):c.102G>A(p.Ser34Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00372 in 1,614,138 control chromosomes in the GnomAD database, including 141 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_006567.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FARS2 | ENST00000274680.9 | c.102G>A | p.Ser34Ser | synonymous_variant | Exon 2 of 7 | 1 | NM_006567.5 | ENSP00000274680.4 | ||
FARS2 | ENST00000324331.10 | c.102G>A | p.Ser34Ser | synonymous_variant | Exon 2 of 7 | 1 | ENSP00000316335.5 | |||
FARS2 | ENST00000602691.1 | c.102G>A | p.Ser34Ser | synonymous_variant | Exon 3 of 3 | 3 | ENSP00000473394.1 | |||
FARS2 | ENST00000648580.1 | n.102G>A | non_coding_transcript_exon_variant | Exon 2 of 9 | ENSP00000497889.1 |
Frequencies
GnomAD3 genomes AF: 0.00912 AC: 1387AN: 152134Hom.: 20 Cov.: 32
GnomAD3 exomes AF: 0.00679 AC: 1703AN: 250940Hom.: 43 AF XY: 0.00783 AC XY: 1062AN XY: 135652
GnomAD4 exome AF: 0.00316 AC: 4613AN: 1461886Hom.: 121 Cov.: 32 AF XY: 0.00410 AC XY: 2983AN XY: 727246
GnomAD4 genome AF: 0.00912 AC: 1389AN: 152252Hom.: 20 Cov.: 32 AF XY: 0.00978 AC XY: 728AN XY: 74436
ClinVar
Submissions by phenotype
not specified Benign:2
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
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Combined oxidative phosphorylation defect type 14 Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at