rs235770

Variant names:

• chr20-6781118-T-C
• rs235770

Your query was ambiguous. Multiple possible variants found:

• chr20-6781118-T-C
• chr20-6781118-T-G

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 0.706 in 152,104 control chromosomes in the GnomAD database, including 39,152 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 0.71 (39152 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.193

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.887 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: 0.706 AC: 107254 AN: 151986 Hom.: 39107 Cov.: 32

Gnomad AFR AF: 0.895

Gnomad AMI AF: 0.628

Gnomad AMR AF: 0.684

Gnomad ASJ AF: 0.821

Gnomad EAS AF: 0.672

Gnomad SAS AF: 0.571

Gnomad FIN AF: 0.575

Gnomad MID AF: 0.753

Gnomad NFE AF: 0.622

Gnomad OTH AF: 0.722

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

GnomAD4 genome AF: 0.706 AC: 107346 AN: 152104 Hom.: 39152 Cov.: 32 AF XY: 0.700 AC XY: 51996 AN XY: 74322

Gnomad4 AFR AF: 0.895

Gnomad4 AMR AF: 0.684

Gnomad4 ASJ AF: 0.821

Gnomad4 EAS AF: 0.672

Gnomad4 SAS AF: 0.569

Gnomad4 FIN AF: 0.575

Gnomad4 NFE AF: 0.622

Gnomad4 OTH AF: 0.714

Alfa AF: 0.676 Hom.: 9448

Bravo AF: 0.727

Asia WGS AF: 0.610 AC: 2119 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	2.2
DANN	Benign	0.64

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs235770; hg19: chr20-6761765;