rs950611

Variant names:

• chr6-82257458-A-C
• rs950611

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 0.566 in 151,832 control chromosomes in the GnomAD database, including 24,829 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 0.57 (24829 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.05

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.654 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: 0.566 AC: 85874 AN: 151714 Hom.: 24802 Cov.: 30

Gnomad AFR AF: 0.661

Gnomad AMI AF: 0.563

Gnomad AMR AF: 0.611

Gnomad ASJ AF: 0.505

Gnomad EAS AF: 0.470

Gnomad SAS AF: 0.633

Gnomad FIN AF: 0.486

Gnomad MID AF: 0.595

Gnomad NFE AF: 0.515

Gnomad OTH AF: 0.613

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

GnomAD4 genome AF: 0.566 AC: 85962 AN: 151832 Hom.: 24829 Cov.: 30 AF XY: 0.568 AC XY: 42122 AN XY: 74214

Gnomad4 AFR AF: 0.661

Gnomad4 AMR AF: 0.610

Gnomad4 ASJ AF: 0.505

Gnomad4 EAS AF: 0.471

Gnomad4 SAS AF: 0.633

Gnomad4 FIN AF: 0.486

Gnomad4 NFE AF: 0.515

Gnomad4 OTH AF: 0.616

Alfa AF: 0.527 Hom.: 4380

Bravo AF: 0.580

Asia WGS AF: 0.622 AC: 2162 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.82
DANN	Benign	0.38

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs950611; hg19: chr6-82967175;