2-135911368-T-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001349.4(DARS1):c.1342+14A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00242 in 889,426 control chromosomes in the GnomAD database, including 45 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.1342+14A>G | intron_variant | Intron 14 of 15 | ENST00000264161.9 | NP_001340.2 | ||
DARS1 | NM_001293312.1 | c.1042+14A>G | intron_variant | Intron 13 of 14 | NP_001280241.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00854 AC: 1299AN: 152180Hom.: 20 Cov.: 32
GnomAD3 exomes AF: 0.00233 AC: 566AN: 242418Hom.: 8 AF XY: 0.00160 AC XY: 210AN XY: 131126
GnomAD4 exome AF: 0.00111 AC: 821AN: 737128Hom.: 19 Cov.: 10 AF XY: 0.000903 AC XY: 355AN XY: 393014
GnomAD4 genome AF: 0.00873 AC: 1329AN: 152298Hom.: 26 Cov.: 32 AF XY: 0.00879 AC XY: 655AN XY: 74480
ClinVar
Submissions by phenotype
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. -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at