rs11421911
Your query was ambiguous. Multiple possible variants found:
- chr13-59666357-CAAAAAA-C
- chr13-59666357-CAAAAAA-CA
- chr13-59666357-CAAAAAA-CAA
- chr13-59666357-CAAAAAA-CAAA
- chr13-59666357-CAAAAAA-CAAAA
- chr13-59666357-CAAAAAA-CAAAAA
- chr13-59666357-CAAAAAA-CAAAAAAA
- chr13-59666357-CAAAAAA-CAAAAAAAA
- chr13-59666357-CAAAAAA-CAAAAAAAAA
- chr13-59666357-CAAAAAA-CAAAAAAAAAA
- chr13-59666357-CAAAAAA-CAAAAAAAAAAA
- chr13-59666357-CAAAAAA-CAAAAAAAAAAAAA
- chr13-59666357-CAAAAAA-CAAAAAAAAAAAAAA
- chr13-59666357-CAAAAAA-CAAAAAAAAAAAAAAA
- chr13-59666357-CAAAAAA-CAAAAAAAAAAAAAAAAAAAAAAAAA
- chr13-59666357-CAAAAAA-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- chr13-59666357-CAAAAAA-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- chr13-59666357-CAAAAAA-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.
The NM_001042517.2(DIAPH3):c.*221_*226delTTTTTT variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000315 in 190,224 control chromosomes in the GnomAD database, with no homozygous occurrence. There is a variant allele frequency bias in the population database for this variant (GnomAdExome4), which may indicate mosaicism or somatic mutations in the reference population data. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0 ( 0 hom., cov: 0)
Exomes 𝑓: 0.000032 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
DIAPH3
NM_001042517.2 3_prime_UTR
NM_001042517.2 3_prime_UTR
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.16
Publications
0 publications found
Genes affected
DIAPH3 (HGNC:15480): (diaphanous related formin 3) This gene encodes a member of the diaphanous subfamily of the formin family. Members of this family are involved in actin remodeling and regulate cell movement and adhesion. Mutations in this gene are associated with autosomal dominant auditory neuropathy 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
DIAPH3 Gene-Disease associations (from GenCC):
- autosomal dominant auditory neuropathy 1Inheritance: AD, Unknown Classification: MODERATE, LIMITED Submitted by: PanelApp Australia, Ambry Genetics, Labcorp Genetics (formerly Invitae)
- autosomal dominant nonsyndromic hearing lossInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
- auditory neuropathyInheritance: AD Classification: LIMITED Submitted by: ClinGen
Genome browser will be placed here
ACMG classification
Classification was made for transcript
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
|---|---|---|---|---|---|---|---|---|---|---|
| DIAPH3 | ENST00000400324.9 | c.*221_*226delTTTTTT | 3_prime_UTR_variant | Exon 28 of 28 | 1 | NM_001042517.2 | ENSP00000383178.3 | |||
| DIAPH3 | ENST00000400319.5 | c.*221_*226delTTTTTT | downstream_gene_variant | 1 | ENSP00000383173.1 |
Frequencies
GnomAD3 genomes 0.00 AC: 0AN: 111942Hom.: 0 Cov.: 0
GnomAD3 genomes
AF:
AC:
0
AN:
111942
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: 0.0000315 AC: 6AN: 190224Hom.: 0 AF XY: 0.0000399 AC XY: 4AN XY: 100166 show subpopulations ⚠️ The allele balance in gnomAD version 4 Exomes is significantly skewed from the expected value of 0.5.
GnomAD4 exome
AF:
AC:
6
AN:
190224
Hom.:
AF XY:
AC XY:
4
AN XY:
100166
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:
4624
American (AMR)
AF:
AC:
0
AN:
6620
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
6006
East Asian (EAS)
AF:
AC:
1
AN:
11196
South Asian (SAS)
AF:
AC:
0
AN:
17702
European-Finnish (FIN)
AF:
AC:
1
AN:
8972
Middle Eastern (MID)
AF:
AC:
0
AN:
922
European-Non Finnish (NFE)
AF:
AC:
4
AN:
122906
Other (OTH)
AF:
AC:
0
AN:
11276
⚠️ The allele balance in gnomAD4 Exomes is highly skewed from 0.5 (p-value = 0.000000), which strongly suggests a high chance of mosaicism in these individuals.
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.242
Heterozygous variant carriers
0
1
2
3
4
5
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
GnomAD4 genome 0.00 AC: 0AN: 111942Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 52656
GnomAD4 genome
Data not reliable, filtered out with message: AC0
AF:
AC:
0
AN:
111942
Hom.:
Cov.:
0
AF XY:
AC XY:
0
AN XY:
52656
African (AFR)
AF:
AC:
0
AN:
29000
American (AMR)
AF:
AC:
0
AN:
10802
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
2868
East Asian (EAS)
AF:
AC:
0
AN:
3686
South Asian (SAS)
AF:
AC:
0
AN:
3360
European-Finnish (FIN)
AF:
AC:
0
AN:
4560
Middle Eastern (MID)
AF:
AC:
0
AN:
226
European-Non Finnish (NFE)
AF:
AC:
0
AN:
55120
Other (OTH)
AF:
AC:
0
AN:
1494
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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