GeneBe

rs5030625

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 0.81 ( 50074 hom., cov: 0)

Consequence

Unknown

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.292

Publications

21 publications found
Variant links:

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ACMG classification

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

BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.88 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:
0.806
AC:
122384
AN:
151870
Hom.:
50068
Cov.:
0
show subpopulations
Gnomad AFR
AF:
0.664
Gnomad AMI
AF:
0.924
Gnomad AMR
AF:
0.800
Gnomad ASJ
AF:
0.931
Gnomad EAS
AF:
0.771
Gnomad SAS
AF:
0.783
Gnomad FIN
AF:
0.825
Gnomad MID
AF:
0.848
Gnomad NFE
AF:
0.886
Gnomad OTH
AF:
0.831
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.806
AC:
122428
AN:
151988
Hom.:
50074
Cov.:
0
AF XY:
0.801
AC XY:
59487
AN XY:
74308
show subpopulations
African (AFR)
AF:
0.663
AC:
27470
AN:
41418
American (AMR)
AF:
0.800
AC:
12216
AN:
15276
Ashkenazi Jewish (ASJ)
AF:
0.931
AC:
3227
AN:
3468
East Asian (EAS)
AF:
0.771
AC:
3966
AN:
5142
South Asian (SAS)
AF:
0.783
AC:
3765
AN:
4808
European-Finnish (FIN)
AF:
0.825
AC:
8719
AN:
10574
Middle Eastern (MID)
AF:
0.847
AC:
249
AN:
294
European-Non Finnish (NFE)
AF:
0.886
AC:
60231
AN:
67992
Other (OTH)
AF:
0.828
AC:
1742
AN:
2104
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.503
Heterozygous variant carriers
0
1117
2233
3350
4466
5583
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Genome Het
Genome Hom
Variant carriers
0
874
1748
2622
3496
4370
<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:
0.811
Hom.:
2512
Bravo
AF:
0.797
Asia WGS
AF:
0.774
AC:
2694
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
PhyloP100
0.29

Splicing

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

Publications

Other links and lift over

dbSNP: rs5030625; hg19: chr16-68770846; COSMIC: COSV55727819; API