rs2532934

Variant names:

• chr6-30926982-G-A
• rs2532934

Your query was ambiguous. Multiple possible variants found:

• chr6-30926982-G-A
• chr6-30926982-G-C
• chr6-30926982-G-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 0.521 in 152,124 control chromosomes in the GnomAD database, including 21,727 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 0.52 (21727 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.18
• Publications: 35 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.822 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: 0.521 AC: 79135 AN: 152006 Hom.: 21712 Cov.: 33

Gnomad AFR AF: 0.366

Gnomad AMI AF: 0.607

Gnomad AMR AF: 0.598

Gnomad ASJ AF: 0.637

Gnomad EAS AF: 0.842

Gnomad SAS AF: 0.763

Gnomad FIN AF: 0.643

Gnomad MID AF: 0.579

Gnomad NFE AF: 0.529

Gnomad OTH AF: 0.516

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

GnomAD4 genome AF: 0.521 AC: 79185 AN: 152124 Hom.: 21727 Cov.: 33 AF XY: 0.533 AC XY: 39626 AN XY: 74384

African (AFR) AF: 0.366 AC: 15170 AN: 41468

American (AMR) AF: 0.598 AC: 9147 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.637 AC: 2212 AN: 3470

East Asian (EAS) AF: 0.843 AC: 4373 AN: 5190

South Asian (SAS) AF: 0.760 AC: 3667 AN: 4822

European-Finnish (FIN) AF: 0.643 AC: 6814 AN: 10590

Middle Eastern (MID) AF: 0.582 AC: 171 AN: 294

European-Non Finnish (NFE) AF: 0.529 AC: 35974 AN: 67980

Other (OTH) AF: 0.522 AC: 1103 AN: 2114

Alfa AF: 0.535 Hom.: 91927

Bravo AF: 0.507

Asia WGS AF: 0.749 AC: 2606 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.034
DANN	Benign	0.76
PhyloP100		-2.2

Splicing

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

Other links and lift over

dbSNP: rs2532934; hg19: chr6-30894759;