rs7395429

Variant names:

• chr11-643348-G-A
• rs7395429

Your query was ambiguous. Multiple possible variants found:

• chr11-643348-G-A
• chr11-643348-G-C
• chr11-643348-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 0.507 in 151,610 control chromosomes in the GnomAD database, including 19,748 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 0.51 (19748 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.124
• Publications: 11 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.713 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: 0.507 AC: 76859 AN: 151494 Hom.: 19726 Cov.: 31

Gnomad AFR AF: 0.448

Gnomad AMI AF: 0.580

Gnomad AMR AF: 0.543

Gnomad ASJ AF: 0.498

Gnomad EAS AF: 0.732

Gnomad SAS AF: 0.589

Gnomad FIN AF: 0.482

Gnomad MID AF: 0.500

Gnomad NFE AF: 0.516

Gnomad OTH AF: 0.505

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

GnomAD4 genome AF: 0.507 AC: 76929 AN: 151610 Hom.: 19748 Cov.: 31 AF XY: 0.510 AC XY: 37815 AN XY: 74088

African (AFR) AF: 0.448 AC: 18517 AN: 41324

American (AMR) AF: 0.542 AC: 8275 AN: 15254

Ashkenazi Jewish (ASJ) AF: 0.498 AC: 1726 AN: 3466

East Asian (EAS) AF: 0.732 AC: 3767 AN: 5146

South Asian (SAS) AF: 0.589 AC: 2826 AN: 4798

European-Finnish (FIN) AF: 0.482 AC: 5039 AN: 10462

Middle Eastern (MID) AF: 0.497 AC: 145 AN: 292

European-Non Finnish (NFE) AF: 0.516 AC: 35040 AN: 67848

Other (OTH) AF: 0.505 AC: 1066 AN: 2110

Alfa AF: 0.515 Hom.: 60797

Bravo AF: 0.509

Asia WGS AF: 0.619 AC: 2150 AN: 3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	2.7
DANN	Benign	0.55
PhyloP100		-0.12

Splicing

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

Other links and lift over

dbSNP: rs7395429; hg19: chr11-643348;