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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.926 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

Gnomad4 AFR AF: 0.835

Gnomad4 AMR AF: 0.958

Gnomad4 ASJ AF: 0.975

Gnomad4 EAS AF: 0.895

Gnomad4 SAS AF: 0.968

Gnomad4 FIN AF: 0.958

Gnomad4 NFE AF: 0.965

Gnomad4 OTH AF: 0.939

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 v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7934433; hg19: chr11-67083252;