2-135911121-G-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001349.4(DARS1):c.1414+18C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00245 in 1,108,042 control chromosomes in the GnomAD database, including 36 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001349.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DARS1 | NM_001349.4 | c.1414+18C>T | intron_variant | Intron 15 of 15 | ENST00000264161.9 | NP_001340.2 | ||
DARS1 | NM_001293312.1 | c.1114+18C>T | intron_variant | Intron 14 of 14 | NP_001280241.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00838 AC: 1275AN: 152082Hom.: 15 Cov.: 32
GnomAD3 exomes AF: 0.00291 AC: 701AN: 240926Hom.: 11 AF XY: 0.00242 AC XY: 316AN XY: 130326
GnomAD4 exome AF: 0.00150 AC: 1433AN: 955842Hom.: 21 Cov.: 13 AF XY: 0.00135 AC XY: 671AN XY: 496798
GnomAD4 genome AF: 0.00839 AC: 1277AN: 152200Hom.: 15 Cov.: 32 AF XY: 0.00809 AC XY: 602AN XY: 74398
ClinVar
Submissions by phenotype
not provided Benign:2
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not specified Benign:1
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. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at