rs7111267

Variant names:

• chr11-94956207-G-A
• rs7111267

Your query was ambiguous. Multiple possible variants found:

• chr11-94956207-G-A
• chr11-94956207-G-C

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 0.931 in 152,054 control chromosomes in the GnomAD database, including 66,392 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 0.93 (66392 hom., cov: 29)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.78
• Publications: 1 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 (EAS) allele frequency at 95% confidence interval = 0.977 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: 0.931 AC: 141483 AN: 151936 Hom.: 66349 Cov.: 29

Gnomad AFR AF: 0.800

Gnomad AMI AF: 0.995

Gnomad AMR AF: 0.971

Gnomad ASJ AF: 0.962

Gnomad EAS AF: 0.999

Gnomad SAS AF: 0.954

Gnomad FIN AF: 0.995

Gnomad MID AF: 0.975

Gnomad NFE AF: 0.982

Gnomad OTH AF: 0.949

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

GnomAD4 genome AF: 0.931 AC: 141584 AN: 152054 Hom.: 66392 Cov.: 29 AF XY: 0.933 AC XY: 69322 AN XY: 74322

African (AFR) AF: 0.800 AC: 33146 AN: 41414

American (AMR) AF: 0.971 AC: 14834 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.962 AC: 3338 AN: 3470

East Asian (EAS) AF: 0.999 AC: 5182 AN: 5186

South Asian (SAS) AF: 0.954 AC: 4594 AN: 4814

European-Finnish (FIN) AF: 0.995 AC: 10518 AN: 10572

Middle Eastern (MID) AF: 0.976 AC: 287 AN: 294

European-Non Finnish (NFE) AF: 0.982 AC: 66771 AN: 68008

Other (OTH) AF: 0.949 AC: 2007 AN: 2114

Alfa AF: 0.961 Hom.: 73193

Bravo AF: 0.924

Asia WGS AF: 0.971 AC: 3379 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	0.083
DANN	Benign	0.71
PhyloP100		-1.8

Splicing

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

Other links and lift over

dbSNP: rs7111267; hg19: chr11-94689372;