rs7941395

Variant names:

• chr11-67579946-A-G
• rs7941395

Your query was ambiguous. Multiple possible variants found:

• chr11-67579946-A-G
• chr11-67579946-A-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 0.375 in 151,982 control chromosomes in the GnomAD database, including 11,117 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 0.37 (11117 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.123
• Publications: 18 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.422 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: 0.375 AC: 56907 AN: 151864 Hom.: 11116 Cov.: 31

Gnomad AFR AF: 0.386

Gnomad AMI AF: 0.385

Gnomad AMR AF: 0.278

Gnomad ASJ AF: 0.260

Gnomad EAS AF: 0.159

Gnomad SAS AF: 0.296

Gnomad FIN AF: 0.320

Gnomad MID AF: 0.339

Gnomad NFE AF: 0.426

Gnomad OTH AF: 0.371

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

GnomAD4 genome AF: 0.375 AC: 56929 AN: 151982 Hom.: 11117 Cov.: 31 AF XY: 0.364 AC XY: 27023 AN XY: 74318

African (AFR) AF: 0.386 AC: 16004 AN: 41418

American (AMR) AF: 0.277 AC: 4235 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.260 AC: 902 AN: 3468

East Asian (EAS) AF: 0.159 AC: 824 AN: 5176

South Asian (SAS) AF: 0.295 AC: 1421 AN: 4818

European-Finnish (FIN) AF: 0.320 AC: 3383 AN: 10576

Middle Eastern (MID) AF: 0.330 AC: 97 AN: 294

European-Non Finnish (NFE) AF: 0.426 AC: 28936 AN: 67932

Other (OTH) AF: 0.367 AC: 776 AN: 2112

Alfa AF: 0.389 Hom.: 7180

Bravo AF: 0.372

Asia WGS AF: 0.254 AC: 886 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	4.7
DANN	Benign	0.48
PhyloP100		-0.12

Splicing

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

Other links and lift over

dbSNP: rs7941395; hg19: chr11-67347417;