7-95813093-CTTTTT-CTTTTTTTTTTTTTTTTTTTT

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

The NM_001135556.2(DYNC1I1):​c.224-140_224-139insTTTTTTTTTTTTTTT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000179 in 1,114,300 control chromosomes in the GnomAD database, with no homozygous occurrence. It is difficult to determine the true allele frequency of this variant because it is of type INS_BIG, and the frequency of such variant types in population databases may be underestimated and unreliable. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.0000071 ( 0 hom., cov: 0)
Exomes 𝑓: 0.0000010 ( 0 hom. )

Consequence

DYNC1I1
NM_001135556.2 intron

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.361

Publications

0 publications found
Variant links:
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]

Genome browser will be placed here

ACMG classification

Classification was made for transcript

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001135556.2. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.
GeneTranscriptTagsHGVScHGVSpEffectExon RankProteinUniProt
DYNC1I1
NM_001135556.2
MANE Select
c.224-140_224-139insTTTTTTTTTTTTTTT
intron
N/ANP_001129028.1O14576-2
DYNC1I1
NM_004411.5
c.224-89_224-88insTTTTTTTTTTTTTTT
intron
N/ANP_004402.1O14576-1
DYNC1I1
NM_001278421.2
c.224-89_224-88insTTTTTTTTTTTTTTT
intron
N/ANP_001265350.1O14576-5

Ensembl Transcripts

Sel.
GeneTranscriptTagsHGVScHGVSpEffectExon RankProteinUniProt
DYNC1I1
ENST00000447467.6
TSL:1 MANE Select
c.224-154_224-153insTTTTTTTTTTTTTTT
intron
N/AENSP00000392337.2O14576-2
DYNC1I1
ENST00000324972.10
TSL:1
c.224-103_224-102insTTTTTTTTTTTTTTT
intron
N/AENSP00000320130.6O14576-1
DYNC1I1
ENST00000457059.2
TSL:1
c.224-154_224-153insTTTTTTTTTTTTTTT
intron
N/AENSP00000412444.1O14576-2

Frequencies

GnomAD3 genomes
AF:
0.00000712
AC:
1
AN:
140374
Hom.:
0
Cov.:
0
show subpopulations
Gnomad AFR
AF:
0.00
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.00
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.00
Gnomad FIN
AF:
0.00
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.0000153
Gnomad OTH
AF:
0.00
GnomAD4 exome
AF:
0.00000103
AC:
1
AN:
973926
Hom.:
0
AF XY:
0.00
AC XY:
0
AN XY:
484632
show subpopulations
African (AFR)
AF:
0.0000532
AC:
1
AN:
18796
American (AMR)
AF:
0.00
AC:
0
AN:
17456
Ashkenazi Jewish (ASJ)
AF:
0.00
AC:
0
AN:
16878
East Asian (EAS)
AF:
0.00
AC:
0
AN:
26528
South Asian (SAS)
AF:
0.00
AC:
0
AN:
49364
European-Finnish (FIN)
AF:
0.00
AC:
0
AN:
30472
Middle Eastern (MID)
AF:
0.00
AC:
0
AN:
2948
European-Non Finnish (NFE)
AF:
0.00
AC:
0
AN:
771072
Other (OTH)
AF:
0.00
AC:
0
AN:
40412
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.925
Heterozygous variant carriers
0
0
1
1
2
2
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Exome Het
Variant carriers
0
2
4
6
8
10
<30
30-35
35-40
40-45
45-50
50-55
55-60
60-65
65-70
70-75
75-80
>80
Age
GnomAD4 genome
AF:
0.00000712
AC:
1
AN:
140374
Hom.:
0
Cov.:
0
AF XY:
0.0000148
AC XY:
1
AN XY:
67554
show subpopulations
African (AFR)
AF:
0.00
AC:
0
AN:
38112
American (AMR)
AF:
0.00
AC:
0
AN:
13880
Ashkenazi Jewish (ASJ)
AF:
0.00
AC:
0
AN:
3382
East Asian (EAS)
AF:
0.00
AC:
0
AN:
4846
South Asian (SAS)
AF:
0.00
AC:
0
AN:
4522
European-Finnish (FIN)
AF:
0.00
AC:
0
AN:
7086
Middle Eastern (MID)
AF:
0.00
AC:
0
AN:
294
European-Non Finnish (NFE)
AF:
0.0000153
AC:
1
AN:
65436
Other (OTH)
AF:
0.00
AC:
0
AN:
1924
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.675
Heterozygous variant carriers
0
0
1
1
2
2
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Genome Het
Variant carriers
0
2
4
6
8
10
<30
30-35
35-40
40-45
45-50
50-55
55-60
60-65
65-70
70-75
75-80
>80
Age

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name
Calibrated prediction
Score
Prediction
PhyloP100
0.36

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

Other links and lift over

dbSNP: rs11452827; hg19: chr7-95442405; API
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.