rs56145914
Your query was ambiguous. Multiple possible variants found:
- chr1-6640071-CAAAAAA-C
- chr1-6640071-CAAAAAA-CA
- chr1-6640071-CAAAAAA-CAA
- chr1-6640071-CAAAAAA-CAAA
- chr1-6640071-CAAAAAA-CAAAA
- chr1-6640071-CAAAAAA-CAAAAA
- chr1-6640071-CAAAAAA-CAAAAAAA
- chr1-6640071-CAAAAAA-CAAAAAAAA
- chr1-6640071-CAAAAAA-CAAAAAAAAA
- chr1-6640071-CAAAAAA-CAAAAAAAAAA
- chr1-6640071-CAAAAAA-CAAAAAAAAAAA
- chr1-6640071-CAAAAAA-CAAAAAAAAAAAA
- chr1-6640071-CAAAAAA-CAAAAAAAAAAAAA
- chr1-6640071-CAAAAAA-CAAAAAAAAAAAAAA
- chr1-6640071-CAAAAAA-CAAAAAAAAAAAAAAA
- chr1-6640071-CAAAAAA-CAAAAAAAAAAAAAAAAAA
- chr1-6640071-CAAAAAA-CAAAAAAAAAAAAAAAAAAAAA
- chr1-6640071-CAAAAAA-CAAAAAAAAAAAAAAAAAAAAAAA
Variant summary
Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2
The NM_018198.4(DNAJC11):c.1098-20_1098-15delTTTTTT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000246 in 1,219,026 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: 𝑓 0.000012 ( 0 hom., cov: 0)
Exomes 𝑓: 0.0000018 ( 0 hom. )
Consequence
DNAJC11
NM_018198.4 intron
NM_018198.4 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.23
Publications
0 publications found
Genes affected
DNAJC11 (HGNC:25570): (DnaJ heat shock protein family (Hsp40) member C11) Involved in cristae formation. Located in mitochondrial outer membrane and nuclear speck. Part of MIB complex. Colocalizes with MICOS complex and SAM complex. [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 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Variant Effect in Transcripts
ACMG analysis was done for transcript: NM_018198.4. 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 |
|---|---|---|---|---|---|---|---|---|---|
| DNAJC11 | NM_018198.4 | MANE Select | c.1098-20_1098-15delTTTTTT | intron | N/A | NP_060668.2 | Q9NVH1-1 |
Ensembl Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| DNAJC11 | ENST00000377577.10 | TSL:1 MANE Select | c.1098-20_1098-15delTTTTTT | intron | N/A | ENSP00000366800.5 | Q9NVH1-1 | ||
| DNAJC11 | ENST00000294401.11 | TSL:1 | c.1098-1713_1098-1708delTTTTTT | intron | N/A | ENSP00000294401.7 | Q9NVH1-3 | ||
| DNAJC11 | ENST00000451196.5 | TSL:1 | c.741-5293_741-5288delTTTTTT | intron | N/A | ENSP00000415871.1 | Q5TH61 |
Frequencies
GnomAD3 genomes 0.0000121 AC: 1AN: 82518Hom.: 0 Cov.: 0 show subpopulations
GnomAD3 genomes
AF:
AC:
1
AN:
82518
Hom.:
Cov.:
0
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
GnomAD4 exome AF: 0.00000176 AC: 2AN: 1136508Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 548480 show subpopulations ⚠️ The allele balance in gnomAD version 4 Exomes is significantly skewed from the expected value of 0.5.
GnomAD4 exome
AF:
AC:
2
AN:
1136508
Hom.:
AF XY:
AC XY:
0
AN XY:
548480
show subpopulations
⚠️ The allele balance in gnomAD version 4 Exomes is significantly skewed from the expected value of 0.5.
African (AFR)
AF:
AC:
0
AN:
24168
American (AMR)
AF:
AC:
0
AN:
15368
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
15364
East Asian (EAS)
AF:
AC:
0
AN:
27428
South Asian (SAS)
AF:
AC:
0
AN:
50042
European-Finnish (FIN)
AF:
AC:
0
AN:
24508
Middle Eastern (MID)
AF:
AC:
0
AN:
3046
European-Non Finnish (NFE)
AF:
AC:
2
AN:
930780
Other (OTH)
AF:
AC:
0
AN:
45804
⚠️ The allele balance in gnomAD4 Exomes is highly skewed from 0.5 (p-value = 0), which strongly suggests a high chance of mosaicism in these individuals.
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.225
Heterozygous variant carriers
0
1
1
2
2
3
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 0.0000121 AC: 1AN: 82518Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 38372 show subpopulations
GnomAD4 genome
AF:
AC:
1
AN:
82518
Hom.:
Cov.:
0
AF XY:
AC XY:
0
AN XY:
38372
show subpopulations
African (AFR)
AF:
AC:
1
AN:
19990
American (AMR)
AF:
AC:
0
AN:
7286
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
2386
East Asian (EAS)
AF:
AC:
0
AN:
3250
South Asian (SAS)
AF:
AC:
0
AN:
2936
European-Finnish (FIN)
AF:
AC:
0
AN:
3146
Middle Eastern (MID)
AF:
AC:
0
AN:
186
European-Non Finnish (NFE)
AF:
AC:
0
AN:
41806
Other (OTH)
AF:
AC:
0
AN:
1118
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.525
Heterozygous variant carriers
0
0
1
1
2
2
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Alfa
AF:
Hom.:
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
You must be logged in to view publications. This limit was set because tens of millions (!) of queries from AI bots are generated daily.