rs6857229

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 0.253 in 152,110 control chromosomes in the GnomAD database, including 5,100 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 0.25 ( 5100 hom., cov: 33)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.497
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=-0.96).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.3 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:
0.253
AC:
38499
AN:
151992
Hom.:
5093
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.304
Gnomad AMI
AF:
0.364
Gnomad AMR
AF:
0.218
Gnomad ASJ
AF:
0.201
Gnomad EAS
AF:
0.151
Gnomad SAS
AF:
0.181
Gnomad FIN
AF:
0.303
Gnomad MID
AF:
0.392
Gnomad NFE
AF:
0.236
Gnomad OTH
AF:
0.259
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.253
AC:
38523
AN:
152110
Hom.:
5100
Cov.:
33
AF XY:
0.257
AC XY:
19139
AN XY:
74348
show subpopulations
Gnomad4 AFR
AF:
0.304
Gnomad4 AMR
AF:
0.218
Gnomad4 ASJ
AF:
0.201
Gnomad4 EAS
AF:
0.150
Gnomad4 SAS
AF:
0.183
Gnomad4 FIN
AF:
0.303
Gnomad4 NFE
AF:
0.236
Gnomad4 OTH
AF:
0.257
Alfa
AF:
0.227
Hom.:
8504
Bravo
AF:
0.252

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.96
CADD
Benign
2.1
DANN
Benign
0.47

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: rs6857229; hg19: chr4-76491568; API