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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.854 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

Gnomad4 AFR AF: 0.916

Gnomad4 AMR AF: 0.852

Gnomad4 ASJ AF: 0.930

Gnomad4 EAS AF: 0.878

Gnomad4 SAS AF: 0.903

Gnomad4 FIN AF: 0.776

Gnomad4 NFE AF: 0.819

Gnomad4 OTH AF: 0.879

Alfa AF: 0.830 Hom.: 8911

Bravo AF: 0.864

Asia WGS AF: 0.886 AC: 3081 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6934550; hg19: chr6-96097822;