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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 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

Gnomad4 AFR AF: 0.582

Gnomad4 AMR AF: 0.115

Gnomad4 ASJ AF: 0.0487

Gnomad4 EAS AF: 0.0591

Gnomad4 SAS AF: 0.0554

Gnomad4 FIN AF: 0.0917

Gnomad4 NFE AF: 0.0815

Gnomad4 OTH AF: 0.181

Alfa AF: 0.0852 Hom.: 1401

Bravo AF: 0.238

Asia WGS AF: 0.0820 AC: 288 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7105934; hg19: chr11-69239741;