rs7951911

Variant names:

• chr11-45062980-A-G
• rs7951911

Your query was ambiguous. Multiple possible variants found:

• chr11-45062980-A-G
• chr11-45062980-A-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 0.221 in 152,200 control chromosomes in the GnomAD database, including 6,360 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 0.22 (6360 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.51
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.514 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: 0.221 AC: 33535 AN: 152082 Hom.: 6337 Cov.: 33

Gnomad AFR AF: 0.520

Gnomad AMI AF: 0.133

Gnomad AMR AF: 0.134

Gnomad ASJ AF: 0.116

Gnomad EAS AF: 0.0434

Gnomad SAS AF: 0.109

Gnomad FIN AF: 0.0373

Gnomad MID AF: 0.130

Gnomad NFE AF: 0.116

Gnomad OTH AF: 0.199

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

GnomAD4 genome AF: 0.221 AC: 33610 AN: 152200 Hom.: 6360 Cov.: 33 AF XY: 0.214 AC XY: 15903 AN XY: 74410

African (AFR) AF: 0.520 AC: 21569 AN: 41490

American (AMR) AF: 0.134 AC: 2043 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.116 AC: 401 AN: 3470

East Asian (EAS) AF: 0.0435 AC: 225 AN: 5172

South Asian (SAS) AF: 0.109 AC: 526 AN: 4830

European-Finnish (FIN) AF: 0.0373 AC: 396 AN: 10616

Middle Eastern (MID) AF: 0.129 AC: 38 AN: 294

European-Non Finnish (NFE) AF: 0.116 AC: 7866 AN: 68006

Other (OTH) AF: 0.201 AC: 425 AN: 2116

Alfa AF: 0.179 Hom.: 6317

Bravo AF: 0.239

Asia WGS AF: 0.121 AC: 419 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	1.0
DANN	Benign	0.27
PhyloP100		-1.5

Splicing

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

Other links and lift over

dbSNP: rs7951911; hg19: chr11-45084531;