rs7105934

Variant names:

• chr11-69424973-G-A
• rs7105934

Your query was ambiguous. Multiple possible variants found:

• chr11-69424973-G-A
• chr11-69424973-G-C
• chr11-69424973-G-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 152,136 control chromosomes in the GnomAD database, including 7,529 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 (7529 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.17
• Publications: 42 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.576 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.221 AC: 33541 AN: 152018 Hom.: 7497 Cov.: 32

Gnomad AFR AF: 0.581

Gnomad AMI AF: 0.0815

Gnomad AMR AF: 0.115

Gnomad ASJ AF: 0.0487

Gnomad EAS AF: 0.0593

Gnomad SAS AF: 0.0558

Gnomad FIN AF: 0.0917

Gnomad MID AF: 0.127

Gnomad NFE AF: 0.0815

Gnomad OTH AF: 0.182

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

GnomAD4 genome AF: 0.221 AC: 33624 AN: 152136 Hom.: 7529 Cov.: 32 AF XY: 0.217 AC XY: 16107 AN XY: 74384

African (AFR) AF: 0.582 AC: 24119 AN: 41460

American (AMR) AF: 0.115 AC: 1755 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.0487 AC: 169 AN: 3470

East Asian (EAS) AF: 0.0591 AC: 306 AN: 5180

South Asian (SAS) AF: 0.0554 AC: 267 AN: 4820

European-Finnish (FIN) AF: 0.0917 AC: 972 AN: 10594

Middle Eastern (MID) AF: 0.136 AC: 40 AN: 294

European-Non Finnish (NFE) AF: 0.0815 AC: 5541 AN: 68004

Other (OTH) AF: 0.181 AC: 381 AN: 2110

Alfa AF: 0.112 Hom.: 8229

Bravo AF: 0.238

Asia WGS AF: 0.0820 AC: 288 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.095
DANN	Benign	0.53
PhyloP100		-3.2

Splicing

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

Other links and lift over

dbSNP: rs7105934; hg19: chr11-69239741;