rs980211

Variant names:

• chr18-70746131-T-C
• rs980211

Your query was ambiguous. Multiple possible variants found:

• chr18-70746131-T-C
• chr18-70746131-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 0.319 in 151,864 control chromosomes in the GnomAD database, including 8,153 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 0.32 (8153 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.44

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.42 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: 0.319 AC: 48376 AN: 151744 Hom.: 8136 Cov.: 31

Gnomad AFR AF: 0.425

Gnomad AMI AF: 0.317

Gnomad AMR AF: 0.361

Gnomad ASJ AF: 0.226

Gnomad EAS AF: 0.318

Gnomad SAS AF: 0.346

Gnomad FIN AF: 0.238

Gnomad MID AF: 0.263

Gnomad NFE AF: 0.260

Gnomad OTH AF: 0.322

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

GnomAD4 genome AF: 0.319 AC: 48434 AN: 151864 Hom.: 8153 Cov.: 31 AF XY: 0.319 AC XY: 23709 AN XY: 74212

Gnomad4 AFR AF: 0.425

Gnomad4 AMR AF: 0.361

Gnomad4 ASJ AF: 0.226

Gnomad4 EAS AF: 0.318

Gnomad4 SAS AF: 0.345

Gnomad4 FIN AF: 0.238

Gnomad4 NFE AF: 0.260

Gnomad4 OTH AF: 0.327

Alfa AF: 0.308 Hom.: 1296

Bravo AF: 0.334

Asia WGS AF: 0.380 AC: 1319 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.70
DANN	Benign	0.42

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs980211; hg19: chr18-68413367;