chr10-74536031-A-G
Variant names:
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_006721.4(ADK):c.726+10605A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.307 in 151,808 control chromosomes in the GnomAD database, including 9,181 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.31 ( 9181 hom., cov: 30)
Consequence
ADK
NM_006721.4 intron
NM_006721.4 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.53
Publications
18 publications found
Genes affected
ADK (HGNC:257): (adenosine kinase) This gene an enzyme which catalyzes the transfer of the gamma-phosphate from ATP to adenosine, thereby serving as a regulator of concentrations of both extracellular adenosine and intracellular adenine nucleotides. Adenosine has widespread effects on the cardiovascular, nervous, respiratory, and immune systems and inhibitors of the enzyme could play an important pharmacological role in increasing intravascular adenosine concentrations and acting as anti-inflammatory agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
ADK Gene-Disease associations (from GenCC):
- adenosine kinase deficiencyInheritance: AR Classification: DEFINITIVE, STRONG, SUPPORTIVE, LIMITED Submitted by: Orphanet, Labcorp Genetics (formerly Invitae), G2P, ClinGen
Genome browser will be placed here
ACMG classification
Classification was made for transcript
Our verdict: Benign. The variant received -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.89).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.44 is higher than 0.05.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.307 AC: 46619AN: 151690Hom.: 9183 Cov.: 30 show subpopulations
GnomAD3 genomes
AF:
AC:
46619
AN:
151690
Hom.:
Cov.:
30
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:
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.307 AC: 46610AN: 151808Hom.: 9181 Cov.: 30 AF XY: 0.300 AC XY: 22270AN XY: 74156 show subpopulations
GnomAD4 genome
AF:
AC:
46610
AN:
151808
Hom.:
Cov.:
30
AF XY:
AC XY:
22270
AN XY:
74156
show subpopulations
African (AFR)
AF:
AC:
3976
AN:
41422
American (AMR)
AF:
AC:
4653
AN:
15234
Ashkenazi Jewish (ASJ)
AF:
AC:
1911
AN:
3470
East Asian (EAS)
AF:
AC:
106
AN:
5178
South Asian (SAS)
AF:
AC:
1024
AN:
4796
European-Finnish (FIN)
AF:
AC:
3551
AN:
10460
Middle Eastern (MID)
AF:
AC:
115
AN:
294
European-Non Finnish (NFE)
AF:
AC:
30174
AN:
67936
Other (OTH)
AF:
AC:
764
AN:
2110
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.503
Heterozygous variant carriers
0
1422
2844
4267
5689
7111
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Genome Het
Genome Hom
Variant carriers
0
450
900
1350
1800
2250
<30
30-35
35-40
40-45
45-50
50-55
55-60
60-65
65-70
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>80
Age
Alfa
AF:
Hom.:
Bravo
AF:
Asia WGS
AF:
AC:
382
AN:
3468
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
DANN
Benign
PhyloP100
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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