GeneBe

rs11327127

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 0.248 in 152,054 control chromosomes in the GnomAD database, including 5,002 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.25 ( 5002 hom., cov: 23)

Consequence

Unknown

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.446

Publications

6 publications found
Variant links:

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ACMG classification

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

BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.292 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:
0.248
AC:
37684
AN:
151934
Hom.:
4998
Cov.:
23
show subpopulations
Gnomad AFR
AF:
0.297
Gnomad AMI
AF:
0.132
Gnomad AMR
AF:
0.195
Gnomad ASJ
AF:
0.213
Gnomad EAS
AF:
0.0766
Gnomad SAS
AF:
0.0647
Gnomad FIN
AF:
0.332
Gnomad MID
AF:
0.182
Gnomad NFE
AF:
0.247
Gnomad OTH
AF:
0.237
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.248
AC:
37711
AN:
152054
Hom.:
5002
Cov.:
23
AF XY:
0.247
AC XY:
18361
AN XY:
74308
show subpopulations
African (AFR)
AF:
0.296
AC:
12300
AN:
41488
American (AMR)
AF:
0.195
AC:
2981
AN:
15304
Ashkenazi Jewish (ASJ)
AF:
0.213
AC:
740
AN:
3472
East Asian (EAS)
AF:
0.0764
AC:
395
AN:
5170
South Asian (SAS)
AF:
0.0644
AC:
311
AN:
4830
European-Finnish (FIN)
AF:
0.332
AC:
3503
AN:
10538
Middle Eastern (MID)
AF:
0.187
AC:
55
AN:
294
European-Non Finnish (NFE)
AF:
0.247
AC:
16799
AN:
67936
Other (OTH)
AF:
0.240
AC:
507
AN:
2112
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.499
Heterozygous variant carriers
0
1400
2799
4199
5598
6998
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Genome Het
Genome Hom
Variant carriers
0
384
768
1152
1536
1920
<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:
0.0840
Hom.:
131
Bravo
AF:
0.242
Asia WGS
AF:
0.0980
AC:
343
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
PhyloP100
0.45

Splicing

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

Publications

Other links and lift over

dbSNP: rs11327127; hg19: chr15-101818159; API