rs12941471

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 0.0868 in 152,228 control chromosomes in the GnomAD database, including 759 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 0.087 ( 759 hom., cov: 33)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.531
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 = 0.245 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:
0.0869
AC:
13214
AN:
152110
Hom.:
759
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.0439
Gnomad AMI
AF:
0.0636
Gnomad AMR
AF:
0.179
Gnomad ASJ
AF:
0.0854
Gnomad EAS
AF:
0.256
Gnomad SAS
AF:
0.0837
Gnomad FIN
AF:
0.125
Gnomad MID
AF:
0.0987
Gnomad NFE
AF:
0.0740
Gnomad OTH
AF:
0.0923
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.0868
AC:
13219
AN:
152228
Hom.:
759
Cov.:
33
AF XY:
0.0922
AC XY:
6864
AN XY:
74430
show subpopulations
Gnomad4 AFR
AF:
0.0438
Gnomad4 AMR
AF:
0.179
Gnomad4 ASJ
AF:
0.0854
Gnomad4 EAS
AF:
0.256
Gnomad4 SAS
AF:
0.0834
Gnomad4 FIN
AF:
0.125
Gnomad4 NFE
AF:
0.0740
Gnomad4 OTH
AF:
0.0927
Alfa
AF:
0.0746
Hom.:
57
Bravo
AF:
0.0912
Asia WGS
AF:
0.147
AC:
510
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
1.5
DANN
Benign
0.57

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: rs12941471; hg19: chr17-69239935; API