rs6934550

Variant names:

• chr6-95649946-G-A
• rs6934550

Your query was ambiguous. Multiple possible variants found:

• chr6-95649946-G-A
• chr6-95649946-G-C
• chr6-95649946-G-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.854 in 152,054 control chromosomes in the GnomAD database, including 55,663 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 0.85 (55663 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.878
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.908 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.854 AC: 129718 AN: 151936 Hom.: 55622 Cov.: 32

Gnomad AFR AF: 0.915

Gnomad AMI AF: 0.762

Gnomad AMR AF: 0.852

Gnomad ASJ AF: 0.930

Gnomad EAS AF: 0.877

Gnomad SAS AF: 0.904

Gnomad FIN AF: 0.776

Gnomad MID AF: 0.934

Gnomad NFE AF: 0.819

Gnomad OTH AF: 0.883

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.854 AC: 129814 AN: 152054 Hom.: 55663 Cov.: 32 AF XY: 0.852 AC XY: 63338 AN XY: 74324

African (AFR) AF: 0.916 AC: 38030 AN: 41534

American (AMR) AF: 0.852 AC: 13004 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.930 AC: 3226 AN: 3468

East Asian (EAS) AF: 0.878 AC: 4494 AN: 5120

South Asian (SAS) AF: 0.903 AC: 4359 AN: 4828

European-Finnish (FIN) AF: 0.776 AC: 8223 AN: 10592

Middle Eastern (MID) AF: 0.922 AC: 271 AN: 294

European-Non Finnish (NFE) AF: 0.819 AC: 55658 AN: 67932

Other (OTH) AF: 0.879 AC: 1856 AN: 2112

Alfa AF: 0.832 Hom.: 9242

Bravo AF: 0.864

Asia WGS AF: 0.886 AC: 3081 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.97
DANN	Benign	0.28
PhyloP100		-0.88

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs6934550; hg19: chr6-96097822;