rs7105701

Variant names:

• chr11-88238611-G-A
• rs7105701

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 0.224 in 152,116 control chromosomes in the GnomAD database, including 3,930 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 (3930 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.423
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.241 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: 0.224 AC: 34030 AN: 151998 Hom.: 3930 Cov.: 32

Gnomad AFR AF: 0.184

Gnomad AMI AF: 0.158

Gnomad AMR AF: 0.223

Gnomad ASJ AF: 0.313

Gnomad EAS AF: 0.213

Gnomad SAS AF: 0.181

Gnomad FIN AF: 0.254

Gnomad MID AF: 0.161

Gnomad NFE AF: 0.244

Gnomad OTH AF: 0.216

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

GnomAD4 genome AF: 0.224 AC: 34035 AN: 152116 Hom.: 3930 Cov.: 32 AF XY: 0.222 AC XY: 16533 AN XY: 74366

African (AFR) AF: 0.184 AC: 7620 AN: 41504

American (AMR) AF: 0.223 AC: 3399 AN: 15266

Ashkenazi Jewish (ASJ) AF: 0.313 AC: 1086 AN: 3470

East Asian (EAS) AF: 0.213 AC: 1104 AN: 5172

South Asian (SAS) AF: 0.180 AC: 868 AN: 4820

European-Finnish (FIN) AF: 0.254 AC: 2690 AN: 10574

Middle Eastern (MID) AF: 0.156 AC: 46 AN: 294

European-Non Finnish (NFE) AF: 0.244 AC: 16624 AN: 67992

Other (OTH) AF: 0.215 AC: 454 AN: 2114

Alfa AF: 0.242 Hom.: 8349

Bravo AF: 0.224

Asia WGS AF: 0.194 AC: 674 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.16
DANN	Benign	0.46
PhyloP100		-0.42

Splicing

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

Other links and lift over

dbSNP: rs7105701; hg19: chr11-87971779;