GeneBe

rs2307930

Variant names:

Variant summary

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

The variant allele was found at a frequency of 0.187 in 152,106 control chromosomes in the GnomAD database, including 3,161 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.19 ( 3161 hom., cov: 28)

Consequence

Unknown

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.512

Publications

3 publications found
Variant links:

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ACMG classification

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

BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.451 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:
0.187
AC:
28454
AN:
151988
Hom.:
3154
Cov.:
28
show subpopulations
Gnomad AFR
AF:
0.142
Gnomad AMI
AF:
0.137
Gnomad AMR
AF:
0.315
Gnomad ASJ
AF:
0.218
Gnomad EAS
AF:
0.467
Gnomad SAS
AF:
0.226
Gnomad FIN
AF:
0.139
Gnomad MID
AF:
0.190
Gnomad NFE
AF:
0.168
Gnomad OTH
AF:
0.210
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.187
AC:
28474
AN:
152106
Hom.:
3161
Cov.:
28
AF XY:
0.190
AC XY:
14135
AN XY:
74354
show subpopulations
African (AFR)
AF:
0.142
AC:
5910
AN:
41528
American (AMR)
AF:
0.316
AC:
4819
AN:
15258
Ashkenazi Jewish (ASJ)
AF:
0.218
AC:
757
AN:
3468
East Asian (EAS)
AF:
0.467
AC:
2402
AN:
5146
South Asian (SAS)
AF:
0.227
AC:
1092
AN:
4816
European-Finnish (FIN)
AF:
0.139
AC:
1472
AN:
10596
Middle Eastern (MID)
AF:
0.190
AC:
56
AN:
294
European-Non Finnish (NFE)
AF:
0.168
AC:
11401
AN:
67980
Other (OTH)
AF:
0.209
AC:
440
AN:
2110
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.500
Heterozygous variant carriers
0
1137
2274
3412
4549
5686
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Genome Het
Genome Hom
Variant carriers
0
302
604
906
1208
1510
<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:
0.168
Hom.:
249
Bravo
AF:
0.199
Asia WGS
AF:
0.300
AC:
1045
AN:
3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
PhyloP100
-0.51

Splicing

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

Publications

Other links and lift over

dbSNP: rs2307930; hg19: chr6-84476378; API