GeneBe

16-31097966-G-GTCATCCA

Variant names:

Variant summary

Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BA1

No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.39 ( 12086 hom., cov: 0)

Consequence

Unknown

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.228

Publications

2 publications found
Variant links:

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ACMG classification

Our verdict: Benign. The variant received -8 ACMG points.

BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.689 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt

Frequencies

GnomAD3 genomes
AF:
0.392
AC:
59373
AN:
151554
Hom.:
12054
Cov.:
0
show subpopulations
Gnomad AFR
AF:
0.421
Gnomad AMI
AF:
0.323
Gnomad AMR
AF:
0.394
Gnomad ASJ
AF:
0.299
Gnomad EAS
AF:
0.107
Gnomad SAS
AF:
0.710
Gnomad FIN
AF:
0.379
Gnomad MID
AF:
0.245
Gnomad NFE
AF:
0.382
Gnomad OTH
AF:
0.358
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.392
AC:
59455
AN:
151672
Hom.:
12086
Cov.:
0
AF XY:
0.396
AC XY:
29366
AN XY:
74118
show subpopulations
African (AFR)
AF:
0.422
AC:
17452
AN:
41346
American (AMR)
AF:
0.394
AC:
6001
AN:
15216
Ashkenazi Jewish (ASJ)
AF:
0.299
AC:
1038
AN:
3468
East Asian (EAS)
AF:
0.106
AC:
550
AN:
5176
South Asian (SAS)
AF:
0.708
AC:
3392
AN:
4788
European-Finnish (FIN)
AF:
0.379
AC:
3995
AN:
10542
Middle Eastern (MID)
AF:
0.243
AC:
71
AN:
292
European-Non Finnish (NFE)
AF:
0.382
AC:
25898
AN:
67822
Other (OTH)
AF:
0.362
AC:
765
AN:
2114
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.494
Heterozygous variant carriers
0
1792
3584
5377
7169
8961
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Genome Het
Genome Hom
Variant carriers
0
578
1156
1734
2312
2890
<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:
0.207
Hom.:
358
Asia WGS
AF:
0.455
AC:
1578
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
PhyloP100
0.23

Splicing

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

Publications

Other links and lift over

dbSNP: rs59502288; hg19: chr16-31109287; API