14-73977387-GAAAAAA-GAAAAAAAAAAA
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.
The ENST00000334696.11(ENTPD5):c.442-14_442-13insTTTTT variant causes a 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: not found (cov: 0)
Exomes 𝑓: 9.7e-7 ( 0 hom. )
Consequence
ENTPD5
ENST00000334696.11 intron
ENST00000334696.11 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.242
Publications
0 publications found
Genes affected
ENTPD5 (HGNC:3367): (ectonucleoside triphosphate diphosphohydrolase 5 (inactive)) The protein encoded by this gene is similar to E-type nucleotidases (NTPases)/ecto-ATPase/apyrases. NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD5 contains 4 apyrase-conserved regions which is characteristic of NTPases. [provided by RefSeq, Jan 2009]
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: ENST00000334696.11. You can select a different transcript below to see updated ACMG assignments.
RefSeq Transcripts
| Selected | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| ENTPD5 | NM_001249.5 | MANE Select | c.442-18_442-14dupTTTTT | intron | N/A | NP_001240.1 | |||
| ENTPD5 | NM_001321985.3 | c.442-18_442-14dupTTTTT | intron | N/A | NP_001308914.1 | ||||
| ENTPD5 | NM_001321986.3 | c.442-18_442-14dupTTTTT | intron | N/A | NP_001308915.1 |
Ensembl Transcripts
| Selected | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| ENTPD5 | ENST00000334696.11 | TSL:5 MANE Select | c.442-14_442-13insTTTTT | intron | N/A | ENSP00000335246.6 | |||
| ENTPD5 | ENST00000557325.5 | TSL:2 | c.442-14_442-13insTTTTT | intron | N/A | ENSP00000451810.1 | |||
| ENTPD5 | ENST00000553284.5 | TSL:3 | c.442-14_442-13insTTTTT | intron | N/A | ENSP00000451591.1 |
Frequencies
GnomAD3 genomes
GnomAD3 genomes
Cov.:
0
GnomAD4 exome AF: 9.70e-7 AC: 1AN: 1030622Hom.: 0 Cov.: 14 AF XY: 0.00000190 AC XY: 1AN XY: 526640 show subpopulations ⚠️ The allele balance in gnomAD version 4 Exomes is significantly skewed from the expected value of 0.5.
GnomAD4 exome
AF:
AC:
1
AN:
1030622
Hom.:
Cov.:
14
AF XY:
AC XY:
1
AN XY:
526640
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:
22746
American (AMR)
AF:
AC:
0
AN:
30854
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
21024
East Asian (EAS)
AF:
AC:
0
AN:
34824
South Asian (SAS)
AF:
AC:
0
AN:
68828
European-Finnish (FIN)
AF:
AC:
0
AN:
39632
Middle Eastern (MID)
AF:
AC:
0
AN:
4452
European-Non Finnish (NFE)
AF:
AC:
1
AN:
763638
Other (OTH)
AF:
AC:
0
AN:
44624
⚠️ 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: 0.275
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
GnomAD4 genome
Cov.:
0
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.