rs6987323

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 0.034 in 152,274 control chromosomes in the GnomAD database, including 133 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 0.034 ( 133 hom., cov: 32)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.130
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=-0.85).
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.0935 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt

Frequencies

GnomAD3 genomes
AF:
0.0341
AC:
5193
AN:
152156
Hom.:
133
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.00951
Gnomad AMI
AF:
0.0757
Gnomad AMR
AF:
0.0297
Gnomad ASJ
AF:
0.0965
Gnomad EAS
AF:
0.000772
Gnomad SAS
AF:
0.101
Gnomad FIN
AF:
0.0496
Gnomad MID
AF:
0.133
Gnomad NFE
AF:
0.0411
Gnomad OTH
AF:
0.0425
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.0340
AC:
5183
AN:
152274
Hom.:
133
Cov.:
32
AF XY:
0.0347
AC XY:
2581
AN XY:
74448
show subpopulations
Gnomad4 AFR
AF:
0.00948
Gnomad4 AMR
AF:
0.0297
Gnomad4 ASJ
AF:
0.0965
Gnomad4 EAS
AF:
0.000773
Gnomad4 SAS
AF:
0.101
Gnomad4 FIN
AF:
0.0496
Gnomad4 NFE
AF:
0.0411
Gnomad4 OTH
AF:
0.0416
Alfa
AF:
0.00902
Hom.:
1
Bravo
AF:
0.0309
Asia WGS
AF:
0.0400
AC:
140
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.85
CADD
Benign
0.94
DANN
Benign
0.29

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: rs6987323; hg19: chr8-42597232; API