rs6966222

Variant names:

• chr7-55266309-T-A
• rs6966222

Your query was ambiguous. Multiple possible variants found:

• chr7-55266309-T-A
• chr7-55266309-T-G

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 0.132 in 152,240 control chromosomes in the GnomAD database, including 1,390 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 0.13 (1390 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.40
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.8).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.199 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.132 AC: 20140 AN: 152122 Hom.: 1392 Cov.: 33

Gnomad AFR AF: 0.123

Gnomad AMI AF: 0.252

Gnomad AMR AF: 0.0965

Gnomad ASJ AF: 0.0859

Gnomad EAS AF: 0.203

Gnomad SAS AF: 0.210

Gnomad FIN AF: 0.142

Gnomad MID AF: 0.123

Gnomad NFE AF: 0.135

Gnomad OTH AF: 0.127

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

GnomAD4 genome AF: 0.132 AC: 20144 AN: 152240 Hom.: 1390 Cov.: 33 AF XY: 0.134 AC XY: 9973 AN XY: 74428

African (AFR) AF: 0.123 AC: 5102 AN: 41556

American (AMR) AF: 0.0963 AC: 1473 AN: 15298

Ashkenazi Jewish (ASJ) AF: 0.0859 AC: 298 AN: 3470

East Asian (EAS) AF: 0.203 AC: 1053 AN: 5180

South Asian (SAS) AF: 0.210 AC: 1013 AN: 4830

European-Finnish (FIN) AF: 0.142 AC: 1504 AN: 10582

Middle Eastern (MID) AF: 0.119 AC: 35 AN: 294

European-Non Finnish (NFE) AF: 0.135 AC: 9164 AN: 68008

Other (OTH) AF: 0.129 AC: 272 AN: 2110

Alfa AF: 0.130 Hom.: 185

Bravo AF: 0.126

Asia WGS AF: 0.196 AC: 680 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.80
CADD	Benign	8.5
DANN	Benign	0.82
PhyloP100		1.4

Splicing

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

Other links and lift over

dbSNP: rs6966222; hg19: chr7-55334002;