rs911411

Variant names:

• chr20-49101894-C-G
• rs911411

Your query was ambiguous. Multiple possible variants found:

• chr20-49101894-C-G
• chr20-49101894-C-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.392 in 151,820 control chromosomes in the GnomAD database, including 11,791 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 0.39 (11791 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.603
• Publications: 6 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.405 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: 0.393 AC: 59555 AN: 151702 Hom.: 11784 Cov.: 31

Gnomad AFR AF: 0.355

Gnomad AMI AF: 0.368

Gnomad AMR AF: 0.368

Gnomad ASJ AF: 0.477

Gnomad EAS AF: 0.337

Gnomad SAS AF: 0.371

Gnomad FIN AF: 0.468

Gnomad MID AF: 0.516

Gnomad NFE AF: 0.409

Gnomad OTH AF: 0.417

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

GnomAD4 genome AF: 0.392 AC: 59586 AN: 151820 Hom.: 11791 Cov.: 31 AF XY: 0.392 AC XY: 29052 AN XY: 74190

African (AFR) AF: 0.355 AC: 14709 AN: 41410

American (AMR) AF: 0.367 AC: 5600 AN: 15242

Ashkenazi Jewish (ASJ) AF: 0.477 AC: 1654 AN: 3468

East Asian (EAS) AF: 0.338 AC: 1735 AN: 5136

South Asian (SAS) AF: 0.372 AC: 1792 AN: 4816

European-Finnish (FIN) AF: 0.468 AC: 4928 AN: 10520

Middle Eastern (MID) AF: 0.507 AC: 149 AN: 294

European-Non Finnish (NFE) AF: 0.410 AC: 27811 AN: 67912

Other (OTH) AF: 0.413 AC: 873 AN: 2112

Alfa AF: 0.398 Hom.: 1482

Bravo AF: 0.389

Asia WGS AF: 0.350 AC: 1215 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.77
DANN	Benign	0.16
PhyloP100		-0.60

Splicing

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

Other links and lift over

dbSNP: rs911411; hg19: chr20-47718431;