rs2868371

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 0.224 in 152,000 control chromosomes in the GnomAD database, including 4,511 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 0.22 ( 4511 hom., cov: 32)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.210
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=-0.91).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.586 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:
0.224
AC:
34040
AN:
151882
Hom.:
4508
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.125
Gnomad AMI
AF:
0.247
Gnomad AMR
AF:
0.260
Gnomad ASJ
AF:
0.233
Gnomad EAS
AF:
0.604
Gnomad SAS
AF:
0.284
Gnomad FIN
AF:
0.204
Gnomad MID
AF:
0.187
Gnomad NFE
AF:
0.246
Gnomad OTH
AF:
0.228
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.224
AC:
34053
AN:
152000
Hom.:
4511
Cov.:
32
AF XY:
0.227
AC XY:
16863
AN XY:
74272
show subpopulations
Gnomad4 AFR
AF:
0.124
Gnomad4 AMR
AF:
0.261
Gnomad4 ASJ
AF:
0.233
Gnomad4 EAS
AF:
0.603
Gnomad4 SAS
AF:
0.285
Gnomad4 FIN
AF:
0.204
Gnomad4 NFE
AF:
0.246
Gnomad4 OTH
AF:
0.230
Alfa
AF:
0.229
Hom.:
520
Bravo
AF:
0.228
Asia WGS
AF:
0.415
AC:
1442
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.91
CADD
Benign
1.4
DANN
Benign
0.44

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: rs2868371; hg19: chr7-75930759; API