2-26402090-A-AGCGCATCCAGGCCCG
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PM4
The NM_145038.5(DRC1):c.106_120dupATCCAGGCCCGGCGC(p.Ile36_Arg40dup) variant causes a conservative inframe insertion change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_145038.5 conservative_inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DRC1 | ENST00000288710.7 | c.106_120dupATCCAGGCCCGGCGC | p.Ile36_Arg40dup | conservative_inframe_insertion | Exon 1 of 17 | 2 | NM_145038.5 | ENSP00000288710.2 | ||
DRC1 | ENST00000421869.5 | n.106_120dupATCCAGGCCCGGCGC | non_coding_transcript_exon_variant | Exon 1 of 8 | 1 | ENSP00000414375.1 | ||||
DRC1 | ENST00000649059.1 | n.91_105dupATCCAGGCCCGGCGC | non_coding_transcript_exon_variant | Exon 1 of 16 | ENSP00000497543.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Uncertain:1
This variant, c.106_120dup, results in the insertion of 5 amino acids to the DRC1 protein (p.Ile36_Arg40dup) but otherwise preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with DRC1-related conditions. This variant is not present in population databases (ExAC no frequency). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at