rs956727

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 0.0323 in 152,298 control chromosomes in the GnomAD database, including 362 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 0.032 ( 362 hom., cov: 33)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.488
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=-0.89).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.243 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:
0.0322
AC:
4906
AN:
152178
Hom.:
356
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.0126
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.116
Gnomad ASJ
AF:
0.0121
Gnomad EAS
AF:
0.256
Gnomad SAS
AF:
0.0906
Gnomad FIN
AF:
0.0180
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.00795
Gnomad OTH
AF:
0.0344
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.0323
AC:
4922
AN:
152298
Hom.:
362
Cov.:
33
AF XY:
0.0368
AC XY:
2742
AN XY:
74486
show subpopulations
Gnomad4 AFR
AF:
0.0128
Gnomad4 AMR
AF:
0.117
Gnomad4 ASJ
AF:
0.0121
Gnomad4 EAS
AF:
0.255
Gnomad4 SAS
AF:
0.0907
Gnomad4 FIN
AF:
0.0180
Gnomad4 NFE
AF:
0.00794
Gnomad4 OTH
AF:
0.0336
Alfa
AF:
0.0190
Hom.:
365
Bravo
AF:
0.0417
Asia WGS
AF:
0.140
AC:
485
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.89
CADD
Benign
4.2
DANN
Benign
0.70

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: rs956727; hg19: chr9-86846933; API