rs7774158

Variant names:

• chr6-33039975-C-A
• rs7774158

Your query was ambiguous. Multiple possible variants found:

• chr6-33039975-C-A
• chr6-33039975-C-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 0.318 in 151,964 control chromosomes in the GnomAD database, including 8,352 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 0.32 (8352 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.546
• Publications: 20 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 (SAS) allele frequency at 95% confidence interval = 0.503 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: 0.318 AC: 48284 AN: 151844 Hom.: 8345 Cov.: 32

Gnomad AFR AF: 0.198

Gnomad AMI AF: 0.382

Gnomad AMR AF: 0.273

Gnomad ASJ AF: 0.603

Gnomad EAS AF: 0.337

Gnomad SAS AF: 0.518

Gnomad FIN AF: 0.415

Gnomad MID AF: 0.494

Gnomad NFE AF: 0.353

Gnomad OTH AF: 0.330

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

GnomAD4 genome AF: 0.318 AC: 48308 AN: 151964 Hom.: 8352 Cov.: 32 AF XY: 0.326 AC XY: 24205 AN XY: 74280

African (AFR) AF: 0.198 AC: 8229 AN: 41460

American (AMR) AF: 0.273 AC: 4163 AN: 15258

Ashkenazi Jewish (ASJ) AF: 0.603 AC: 2094 AN: 3470

East Asian (EAS) AF: 0.337 AC: 1735 AN: 5156

South Asian (SAS) AF: 0.520 AC: 2508 AN: 4826

European-Finnish (FIN) AF: 0.415 AC: 4381 AN: 10550

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

European-Non Finnish (NFE) AF: 0.353 AC: 24007 AN: 67934

Other (OTH) AF: 0.331 AC: 699 AN: 2110

Alfa AF: 0.347 Hom.: 37572

Bravo AF: 0.298

Asia WGS AF: 0.437 AC: 1517 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.0
DANN	Benign	0.25
PhyloP100		-0.55

Splicing

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

Other links and lift over

dbSNP: rs7774158; hg19: chr6-33007752;