rs201331879
Variant names:
Your query was ambiguous. Multiple possible variants found:
- chr12-15681305-GTAATAATAATAATAA-G
- chr12-15681305-GTAATAATAATAATAA-GTAA
- chr12-15681305-GTAATAATAATAATAA-GTAATAA
- chr12-15681305-GTAATAATAATAATAA-GTAATAATAA
- chr12-15681305-GTAATAATAATAATAA-GTAATAATAATAA
- chr12-15681305-GTAATAATAATAATAA-GTAATAATAATAATAATAA
- chr12-15681305-GTAATAATAATAATAA-GTAATAATAATAATAATAATAA
- chr12-15681305-GTAATAATAATAATAA-GTAATAATAATAATAATAATAATAA
- chr12-15681305-GTAATAATAATAATAA-GTAATAATAATAATAATAATAATAATAA
- chr12-15681305-GTAATAATAATAATAA-GTAATAATAATAATAATAATAATAATAATAA
- chr12-15681305-GTAATAATAATAATAA-GTAATAATAATAATAATAATAATAATAATAATAA
- chr12-15681305-GTAATAATAATAATAA-GTAATAATAATAATAATAATAATAATAATAATAATAA
- chr12-15681305-GTAATAATAATAATAA-GTAATAATAATAATAATAATAATAATAATAATAATAATAA
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.
The NM_004447.6(EPS8):c.60-18_60-4delTTATTATTATTATTA variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000369 in 1,083,814 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 DEL_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 0.0000068 ( 0 hom., cov: 27)
Exomes 𝑓: 0.0000032 ( 0 hom. )
Consequence
EPS8
NM_004447.6 splice_region, intron
NM_004447.6 splice_region, intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 3.19
Publications
1 publications found
Genes affected
EPS8 (HGNC:3420): (EGFR pathway substrate 8, signaling adaptor) This gene encodes a member of the EPS8 family. This protein contains one PH domain and one SH3 domain. It functions as part of the EGFR pathway, though its exact role has not been determined. Highly similar proteins in other organisms are involved in the transduction of signals from Ras to Rac and growth factor-mediated actin remodeling. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
EPS8 Gene-Disease associations (from GenCC):
- autosomal recessive nonsyndromic hearing loss 102Inheritance: AR Classification: STRONG, MODERATE Submitted by: Ambry Genetics, ClinGen, Labcorp Genetics (formerly Invitae)
- hearing loss, autosomal recessiveInheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet
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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_004447.6. 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 |
|---|---|---|---|---|---|---|---|---|---|
| EPS8 | MANE Select | c.60-18_60-4delTTATTATTATTATTA | splice_region intron | N/A | NP_004438.3 | ||||
| EPS8 | c.60-18_60-4delTTATTATTATTATTA | splice_region intron | N/A | NP_001400760.1 | |||||
| EPS8 | c.60-18_60-4delTTATTATTATTATTA | splice_region intron | N/A | NP_001400761.1 | Q12929-1 |
Ensembl Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| EPS8 | TSL:1 MANE Select | c.60-18_60-4delTTATTATTATTATTA | splice_region intron | N/A | ENSP00000281172.5 | Q12929-1 | |||
| EPS8 | TSL:1 | n.60-18_60-4delTTATTATTATTATTA | splice_region intron | N/A | ENSP00000445985.1 | F5H0R8 | |||
| EPS8 | c.60-18_60-4delTTATTATTATTATTA | splice_region intron | N/A | ENSP00000550468.1 |
Frequencies
GnomAD3 genomes 0.00000680 AC: 1AN: 146964Hom.: 0 Cov.: 27 show subpopulations
GnomAD3 genomes
AF:
AC:
1
AN:
146964
Hom.:
Cov.:
27
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: 0.00000320 AC: 3AN: 936850Hom.: 0 AF XY: 0.00000424 AC XY: 2AN XY: 471856 show subpopulations
GnomAD4 exome
AF:
AC:
3
AN:
936850
Hom.:
AF XY:
AC XY:
2
AN XY:
471856
show subpopulations
African (AFR)
AF:
AC:
0
AN:
16896
American (AMR)
AF:
AC:
1
AN:
24296
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
16942
East Asian (EAS)
AF:
AC:
0
AN:
28612
South Asian (SAS)
AF:
AC:
0
AN:
36562
European-Finnish (FIN)
AF:
AC:
0
AN:
38944
Middle Eastern (MID)
AF:
AC:
0
AN:
2840
European-Non Finnish (NFE)
AF:
AC:
2
AN:
733266
Other (OTH)
AF:
AC:
0
AN:
38492
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.692
Heterozygous variant carriers
0
1
1
2
2
3
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
GnomAD4 genome 0.00000680 AC: 1AN: 146964Hom.: 0 Cov.: 27 AF XY: 0.0000140 AC XY: 1AN XY: 71454 show subpopulations
GnomAD4 genome
AF:
AC:
1
AN:
146964
Hom.:
Cov.:
27
AF XY:
AC XY:
1
AN XY:
71454
show subpopulations
African (AFR)
AF:
AC:
1
AN:
39894
American (AMR)
AF:
AC:
0
AN:
14734
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
3424
East Asian (EAS)
AF:
AC:
0
AN:
5090
South Asian (SAS)
AF:
AC:
0
AN:
4650
European-Finnish (FIN)
AF:
AC:
0
AN:
9124
Middle Eastern (MID)
AF:
AC:
0
AN:
306
European-Non Finnish (NFE)
AF:
AC:
0
AN:
66834
Other (OTH)
AF:
AC:
0
AN:
2002
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.575
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
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