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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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

Gnomad4 AFR AF: 0.520

Gnomad4 AMR AF: 0.134

Gnomad4 ASJ AF: 0.116

Gnomad4 EAS AF: 0.0435

Gnomad4 SAS AF: 0.109

Gnomad4 FIN AF: 0.0373

Gnomad4 NFE AF: 0.116

Gnomad4 OTH AF: 0.201

Alfa AF: 0.134 Hom.: 2024

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7951911; hg19: chr11-45084531;