rs235730

Variant names:

• chr20-6755542-A-G
• rs235730

Your query was ambiguous. Multiple possible variants found:

• chr20-6755542-A-G
• chr20-6755542-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 0.681 in 152,092 control chromosomes in the GnomAD database, including 36,393 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 0.68 (36393 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0130

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.845 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: 0.681 AC: 103481 AN: 151974 Hom.: 36349 Cov.: 32

Gnomad AFR AF: 0.852

Gnomad AMI AF: 0.529

Gnomad AMR AF: 0.651

Gnomad ASJ AF: 0.645

Gnomad EAS AF: 0.763

Gnomad SAS AF: 0.556

Gnomad FIN AF: 0.668

Gnomad MID AF: 0.684

Gnomad NFE AF: 0.591

Gnomad OTH AF: 0.693

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

GnomAD4 genome AF: 0.681 AC: 103581 AN: 152092 Hom.: 36393 Cov.: 32 AF XY: 0.682 AC XY: 50672 AN XY: 74352

Gnomad4 AFR AF: 0.852

Gnomad4 AMR AF: 0.651

Gnomad4 ASJ AF: 0.645

Gnomad4 EAS AF: 0.762

Gnomad4 SAS AF: 0.555

Gnomad4 FIN AF: 0.668

Gnomad4 NFE AF: 0.591

Gnomad4 OTH AF: 0.696

Alfa AF: 0.612 Hom.: 30533

Bravo AF: 0.689

Asia WGS AF: 0.678 AC: 2361 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	3.3
DANN	Benign	0.76

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs235730; hg19: chr20-6736189;