rs210120

Variant names:

• chr6-33606636-A-G
• rs210120

Your query was ambiguous. Multiple possible variants found:

• chr6-33606636-A-G
• chr6-33606636-A-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 0.494 in 151,946 control chromosomes in the GnomAD database, including 19,356 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 0.49 (19356 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.331

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.623 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: 0.494 AC: 75051 AN: 151828 Hom.: 19327 Cov.: 31

Gnomad AFR AF: 0.629

Gnomad AMI AF: 0.363

Gnomad AMR AF: 0.457

Gnomad ASJ AF: 0.473

Gnomad EAS AF: 0.613

Gnomad SAS AF: 0.520

Gnomad FIN AF: 0.324

Gnomad MID AF: 0.497

Gnomad NFE AF: 0.439

Gnomad OTH AF: 0.506

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

GnomAD4 genome AF: 0.494 AC: 75129 AN: 151946 Hom.: 19356 Cov.: 31 AF XY: 0.489 AC XY: 36315 AN XY: 74254

Gnomad4 AFR AF: 0.629

Gnomad4 AMR AF: 0.456

Gnomad4 ASJ AF: 0.473

Gnomad4 EAS AF: 0.612

Gnomad4 SAS AF: 0.518

Gnomad4 FIN AF: 0.324

Gnomad4 NFE AF: 0.439

Gnomad4 OTH AF: 0.512

Alfa AF: 0.454 Hom.: 36498

Bravo AF: 0.506

Asia WGS AF: 0.590 AC: 2053 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.48
DANN	Benign	0.60

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs210120; hg19: chr6-33574413;