chr8-127512169-T-C

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1

The variant allele was found at a frequency of 0.909 in 152,214 control chromosomes in the GnomAD database, including 63,064 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 0.91 ( 63064 hom., cov: 33)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.186

Publications

10 publications found
Variant links:

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ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.92).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.946 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected
GeneTranscriptTagsHGVScHGVSpEffectExon RankProteinUniProt

There are no transcript annotations for this variant.

Ensembl Transcripts

Selected
GeneTranscriptTagsHGVScHGVSpEffectExon RankProteinUniProt

There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes
AF:
0.909
AC:
138307
AN:
152096
Hom.:
63013
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.953
Gnomad AMI
AF:
0.904
Gnomad AMR
AF:
0.925
Gnomad ASJ
AF:
0.941
Gnomad EAS
AF:
0.848
Gnomad SAS
AF:
0.868
Gnomad FIN
AF:
0.838
Gnomad MID
AF:
0.953
Gnomad NFE
AF:
0.896
Gnomad OTH
AF:
0.915
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.909
AC:
138414
AN:
152214
Hom.:
63064
Cov.:
33
AF XY:
0.907
AC XY:
67417
AN XY:
74366
show subpopulations
African (AFR)
AF:
0.953
AC:
39613
AN:
41550
American (AMR)
AF:
0.924
AC:
14141
AN:
15300
Ashkenazi Jewish (ASJ)
AF:
0.941
AC:
3264
AN:
3470
East Asian (EAS)
AF:
0.848
AC:
4396
AN:
5182
South Asian (SAS)
AF:
0.868
AC:
4190
AN:
4828
European-Finnish (FIN)
AF:
0.838
AC:
8826
AN:
10534
Middle Eastern (MID)
AF:
0.963
AC:
283
AN:
294
European-Non Finnish (NFE)
AF:
0.896
AC:
60954
AN:
68030
Other (OTH)
AF:
0.910
AC:
1923
AN:
2114
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.504
Heterozygous variant carriers
0
656
1312
1968
2624
3280
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Genome Het
Genome Hom
Variant carriers
0
902
1804
2706
3608
4510
<30
30-35
35-40
40-45
45-50
50-55
55-60
60-65
65-70
70-75
75-80
>80
Age
Alfa
AF:
0.909
Hom.:
12979
Bravo
AF:
0.916
Asia WGS
AF:
0.822
AC:
2862
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.92
CADD
Benign
0.95
DANN
Benign
0.45
PhyloP100
0.19

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

Other links and lift over

dbSNP: rs7824868; hg19: chr8-128524414; API