rs7775055

Variant names:

• chr6-32690139-T-C
• rs7775055

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 0.0617 in 132,978 control chromosomes in the GnomAD database, including 319 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 0.062 (319 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.883

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.104 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: 0.0617 AC: 8192 AN: 132866 Hom.: 318 Cov.: 30

Gnomad AFR AF: 0.0788

Gnomad AMI AF: 0.0376

Gnomad AMR AF: 0.108

Gnomad ASJ AF: 0.0233

Gnomad EAS AF: 0.105

Gnomad SAS AF: 0.0195

Gnomad FIN AF: 0.117

Gnomad MID AF: 0.0432

Gnomad NFE AF: 0.0331

Gnomad OTH AF: 0.0553

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

GnomAD4 genome AF: 0.0617 AC: 8210 AN: 132978 Hom.: 319 Cov.: 30 AF XY: 0.0663 AC XY: 4313 AN XY: 65016

Gnomad4 AFR AF: 0.0788

Gnomad4 AMR AF: 0.108

Gnomad4 ASJ AF: 0.0233

Gnomad4 EAS AF: 0.106

Gnomad4 SAS AF: 0.0198

Gnomad4 FIN AF: 0.117

Gnomad4 NFE AF: 0.0331

Gnomad4 OTH AF: 0.0554

Alfa AF: 0.0545 Hom.: 93

Bravo AF: 0.0561

Asia WGS AF: 0.0510 AC: 177 AN: 3468

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7775055; hg19: chr6-32657916;