rs6032664

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The variant allele was found at a frequency of 0.793 in 152,148 control chromosomes in the GnomAD database, including 48,547 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 0.79 ( 48547 hom., cov: 32)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.164
Variant links:

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ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.87).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.932 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:
0.792
AC:
120463
AN:
152030
Hom.:
48473
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.939
Gnomad AMI
AF:
0.759
Gnomad AMR
AF:
0.775
Gnomad ASJ
AF:
0.731
Gnomad EAS
AF:
0.572
Gnomad SAS
AF:
0.738
Gnomad FIN
AF:
0.722
Gnomad MID
AF:
0.722
Gnomad NFE
AF:
0.743
Gnomad OTH
AF:
0.763
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.793
AC:
120598
AN:
152148
Hom.:
48547
Cov.:
32
AF XY:
0.787
AC XY:
58542
AN XY:
74360
show subpopulations
Gnomad4 AFR
AF:
0.939
Gnomad4 AMR
AF:
0.776
Gnomad4 ASJ
AF:
0.731
Gnomad4 EAS
AF:
0.573
Gnomad4 SAS
AF:
0.738
Gnomad4 FIN
AF:
0.722
Gnomad4 NFE
AF:
0.743
Gnomad4 OTH
AF:
0.766
Alfa
AF:
0.781
Hom.:
5819
Bravo
AF:
0.803
Asia WGS
AF:
0.725
AC:
2522
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.87
CADD
Benign
3.4
DANN
Benign
0.83

Splicing

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

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs6032664; hg19: chr20-44739419; API