rs6102185

Variant names:

• chr20-40849893-G-A
• rs6102185

Your query was ambiguous. Multiple possible variants found:

• chr20-40849893-G-A
• chr20-40849893-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 0.673 in 151,476 control chromosomes in the GnomAD database, including 34,810 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 0.67 (34810 hom., cov: 29)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.381

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.775 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: 0.673 AC: 101935 AN: 151358 Hom.: 34780 Cov.: 29

Gnomad AFR AF: 0.782

Gnomad AMI AF: 0.492

Gnomad AMR AF: 0.583

Gnomad ASJ AF: 0.741

Gnomad EAS AF: 0.606

Gnomad SAS AF: 0.656

Gnomad FIN AF: 0.659

Gnomad MID AF: 0.627

Gnomad NFE AF: 0.636

Gnomad OTH AF: 0.664

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

GnomAD4 genome AF: 0.673 AC: 102007 AN: 151476 Hom.: 34810 Cov.: 29 AF XY: 0.668 AC XY: 49408 AN XY: 73912

Gnomad4 AFR AF: 0.782

Gnomad4 AMR AF: 0.582

Gnomad4 ASJ AF: 0.741

Gnomad4 EAS AF: 0.605

Gnomad4 SAS AF: 0.656

Gnomad4 FIN AF: 0.659

Gnomad4 NFE AF: 0.636

Gnomad4 OTH AF: 0.663

Alfa AF: 0.637 Hom.: 29894

Bravo AF: 0.672

Asia WGS AF: 0.609 AC: 2118 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.94
DANN	Benign	0.70

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6102185; hg19: chr20-39478533;