rs11452827
Your query was ambiguous. Multiple possible variants found:
- chr7-95813093-CTTTTT-C
- chr7-95813093-CTTTTT-CT
- chr7-95813093-CTTTTT-CTT
- chr7-95813093-CTTTTT-CTTT
- chr7-95813093-CTTTTT-CTTTT
- chr7-95813093-CTTTTT-CTTTTTT
- chr7-95813093-CTTTTT-CTTTTTTT
- chr7-95813093-CTTTTT-CTTTTTTTT
- chr7-95813093-CTTTTT-CTTTTTTTTT
- chr7-95813093-CTTTTT-CTTTTTTTTTT
- chr7-95813093-CTTTTT-CTTTTTTTTTTT
- chr7-95813093-CTTTTT-CTTTTTTTTTTTT
- chr7-95813093-CTTTTT-CTTTTTTTTTTTTTTTTTTTTTCCTTTTTT
- chr7-95813093-CTTTTT-CTTTTTTTTTTTTT
- chr7-95813093-CTTTTT-CTTTTTTTTTTTTTT
- chr7-95813093-CTTTTT-CTTTTTTTTTTTTTTT
- chr7-95813093-CTTTTT-CTTTTTTTTTTTTTTTT
- chr7-95813093-CTTTTT-CTTTTTTTTTTTTTTTTT
- chr7-95813093-CTTTTT-CTTTTTTTTTTTTTTTTTTTT
- chr7-95813093-CTTTTT-CTTTTTTTTTTTTTTTTTTTTTT
- chr7-95813093-CTTTTT-CTTTTTTTTTTTTTTTTTTTTTTT
- chr7-95813093-CTTTTT-CTTTTTTTTTTTTTTTTTTTTTTTT
- chr7-95813093-CTTTTT-CTTTTTTTTTTTTTTTTTTTTTTTTTT
- chr7-95813093-CTTTTT-CTTTTTTTTTTTTTTTTTTTTTTTTTTT
- chr7-95813093-CTTTTT-CTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- chr7-95813093-CTTTTT-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001135556.2(DYNC1I1):c.224-144_224-140delTTTTT variant causes a intron change. The variant allele was found at a frequency of 0.00000103 in 973,924 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
Genomes: not found (cov: 0)
Exomes 𝑓: 0.0000010 ( 0 hom. )
Consequence
DYNC1I1
NM_001135556.2 intron
NM_001135556.2 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 4.39
Genes affected
DYNC1I1 (HGNC:2963): (dynein cytoplasmic 1 intermediate chain 1) Enables spectrin binding activity. Involved in vesicle transport along microtubule. Located in several cellular components, including kinetochore; recycling endosome; and spindle pole. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 0
GnomAD3 genomes
Cov.:
0
GnomAD4 exome AF: 0.00000103 AC: 1AN: 973924Hom.: 0 AF XY: 0.00000206 AC XY: 1AN XY: 484630
GnomAD4 exome
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1
AN:
973924
Hom.:
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1
AN XY:
484630
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GnomAD4 genome Cov.: 0
GnomAD4 genome
Cov.:
0
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.