11-30878716-TAAAAAA-TAAAAAAAAAAAAAAAA
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.
The NM_001387274.1(DCDC1):c.5234-15_5234-6dupTTTTTTTTTT variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0 ( 0 hom., cov: 0)
Failed GnomAD Quality Control
Consequence
DCDC1
NM_001387274.1 splice_region, intron
NM_001387274.1 splice_region, intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.697
Publications
1 publications found
Genes affected
DCDC1 (HGNC:20625): (doublecortin domain containing 1) This gene encodes a member of the doublecortin family. The protein encoded by this gene is a hydrophilic, intracellular protein. It contains a single doublecortin domain and is unable to bind microtubules and to regulate microtubule polymerization. This gene is mainly expressed in adult testis. It does not have a mouse homolog. [provided by RefSeq, Sep 2010]
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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_001387274.1. You can select a different transcript below to see updated ACMG assignments.
RefSeq Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| DCDC1 | MANE Select | c.5234-15_5234-6dupTTTTTTTTTT | splice_region intron | N/A | NP_001374203.1 | A0A804HJA9 | |||
| DCDC1 | c.5225-15_5225-6dupTTTTTTTTTT | splice_region intron | N/A | NP_001354908.1 | M0R2J8-1 | ||||
| DCDC1 | c.2546-15_2546-6dupTTTTTTTTTT | splice_region intron | N/A | NP_065920.2 | B6ZDN3 |
Ensembl Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| DCDC1 | MANE Select | c.5234-6_5234-5insTTTTTTTTTT | splice_region intron | N/A | ENSP00000507427.1 | A0A804HJA9 | |||
| DCDC1 | TSL:5 | c.5225-6_5225-5insTTTTTTTTTT | splice_region intron | N/A | ENSP00000472625.1 | M0R2J8-1 | |||
| DCDC1 | TSL:5 | c.2546-6_2546-5insTTTTTTTTTT | splice_region intron | N/A | ENSP00000385936.3 | B6ZDN3 |
Frequencies
GnomAD3 genomes 0.00 AC: 0AN: 140192Hom.: 0 Cov.: 0
GnomAD3 genomes
AF:
AC:
0
AN:
140192
Hom.:
Cov.:
0
Gnomad AFR
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GnomAD4 exome Cov.: 0
GnomAD4 exome
Cov.:
0
GnomAD4 genome 0.00 AC: 0AN: 140192Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 67790
GnomAD4 genome
Data not reliable, filtered out with message: AC0
AF:
AC:
0
AN:
140192
Hom.:
Cov.:
0
AF XY:
AC XY:
0
AN XY:
67790
African (AFR)
AF:
AC:
0
AN:
37312
American (AMR)
AF:
AC:
0
AN:
13966
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
3380
East Asian (EAS)
AF:
AC:
0
AN:
4768
South Asian (SAS)
AF:
AC:
0
AN:
4378
European-Finnish (FIN)
AF:
AC:
0
AN:
8246
Middle Eastern (MID)
AF:
AC:
0
AN:
296
European-Non Finnish (NFE)
AF:
AC:
0
AN:
65072
Other (OTH)
AF:
AC:
0
AN:
1898
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
PhyloP100
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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