rs6101206

Variant names:

• chr20-61041582-A-G
• rs6101206

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 0.561 in 152,058 control chromosomes in the GnomAD database, including 24,248 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 0.56 (24248 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.66

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.63 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: 0.560 AC: 85152 AN: 151940 Hom.: 24210 Cov.: 33

Gnomad AFR AF: 0.635

Gnomad AMI AF: 0.565

Gnomad AMR AF: 0.628

Gnomad ASJ AF: 0.558

Gnomad EAS AF: 0.621

Gnomad SAS AF: 0.631

Gnomad FIN AF: 0.432

Gnomad MID AF: 0.617

Gnomad NFE AF: 0.510

Gnomad OTH AF: 0.563

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

GnomAD4 genome AF: 0.561 AC: 85243 AN: 152058 Hom.: 24248 Cov.: 33 AF XY: 0.560 AC XY: 41660 AN XY: 74336

Gnomad4 AFR AF: 0.636

Gnomad4 AMR AF: 0.628

Gnomad4 ASJ AF: 0.558

Gnomad4 EAS AF: 0.620

Gnomad4 SAS AF: 0.632

Gnomad4 FIN AF: 0.432

Gnomad4 NFE AF: 0.510

Gnomad4 OTH AF: 0.560

Alfa AF: 0.556 Hom.: 3991

Bravo AF: 0.582

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.0010
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: rs6101206; hg19: chr20-59616638;