rs551090724
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PM4
The NM_001349.4(DARS1):c.16_21delGCCAGC(p.Ala6_Ser7del) variant causes a conservative inframe deletion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,592 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001349.4 conservative_inframe_deletion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DARS1 | NM_001349.4 | c.16_21delGCCAGC | p.Ala6_Ser7del | conservative_inframe_deletion | Exon 1 of 16 | ENST00000264161.9 | NP_001340.2 | |
DARS1 | NM_001293312.1 | c.-227_-222delGCCAGC | 5_prime_UTR_variant | Exon 1 of 15 | NP_001280241.1 | |||
DARS1-AS1 | NR_110199.1 | n.284_289delCGCTGG | non_coding_transcript_exon_variant | Exon 1 of 4 | ||||
DARS1-AS1 | NR_110200.1 | n.284_289delCGCTGG | non_coding_transcript_exon_variant | Exon 1 of 4 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461592Hom.: 0 AF XY: 0.00000275 AC XY: 2AN XY: 727132
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.