rs7934433

Variant names:

• chr11-67315781-T-C
• rs7934433

Your query was ambiguous. Multiple possible variants found:

• chr11-67315781-T-C
• chr11-67315781-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 0.926 in 152,292 control chromosomes in the GnomAD database, including 65,583 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 0.93 (65583 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.999
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.959 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: 0.926 AC: 140932 AN: 152174 Hom.: 65540 Cov.: 33

Gnomad AFR AF: 0.835

Gnomad AMI AF: 0.963

Gnomad AMR AF: 0.958

Gnomad ASJ AF: 0.975

Gnomad EAS AF: 0.894

Gnomad SAS AF: 0.969

Gnomad FIN AF: 0.958

Gnomad MID AF: 0.940

Gnomad NFE AF: 0.965

Gnomad OTH AF: 0.939

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

GnomAD4 genome AF: 0.926 AC: 141035 AN: 152292 Hom.: 65583 Cov.: 33 AF XY: 0.928 AC XY: 69090 AN XY: 74464

African (AFR) AF: 0.835 AC: 34712 AN: 41548

American (AMR) AF: 0.958 AC: 14650 AN: 15298

Ashkenazi Jewish (ASJ) AF: 0.975 AC: 3385 AN: 3472

East Asian (EAS) AF: 0.895 AC: 4634 AN: 5180

South Asian (SAS) AF: 0.968 AC: 4672 AN: 4828

European-Finnish (FIN) AF: 0.958 AC: 10170 AN: 10620

Middle Eastern (MID) AF: 0.935 AC: 275 AN: 294

European-Non Finnish (NFE) AF: 0.965 AC: 65673 AN: 68026

Other (OTH) AF: 0.939 AC: 1986 AN: 2114

Alfa AF: 0.944 Hom.: 8439

Bravo AF: 0.919

Asia WGS AF: 0.930 AC: 3234 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	1.6
DANN	Benign	0.36
PhyloP100		-1.0

Splicing

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

Other links and lift over

dbSNP: rs7934433; hg19: chr11-67083252;