rs7756332

Variant names:

• chr6-211941-A-G
• rs7756332

Your query was ambiguous. Multiple possible variants found:

• chr6-211941-A-G
• chr6-211941-A-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 0.42 in 152,138 control chromosomes in the GnomAD database, including 15,996 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 0.42 (15996 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.644
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.689 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: 0.419 AC: 63722 AN: 152020 Hom.: 15958 Cov.: 33

Gnomad AFR AF: 0.695

Gnomad AMI AF: 0.195

Gnomad AMR AF: 0.363

Gnomad ASJ AF: 0.360

Gnomad EAS AF: 0.652

Gnomad SAS AF: 0.304

Gnomad FIN AF: 0.276

Gnomad MID AF: 0.294

Gnomad NFE AF: 0.283

Gnomad OTH AF: 0.407

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

GnomAD4 genome AF: 0.420 AC: 63822 AN: 152138 Hom.: 15996 Cov.: 33 AF XY: 0.417 AC XY: 31029 AN XY: 74358

African (AFR) AF: 0.696 AC: 28863 AN: 41492

American (AMR) AF: 0.364 AC: 5560 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.360 AC: 1250 AN: 3470

East Asian (EAS) AF: 0.653 AC: 3375 AN: 5172

South Asian (SAS) AF: 0.300 AC: 1451 AN: 4832

European-Finnish (FIN) AF: 0.276 AC: 2924 AN: 10578

Middle Eastern (MID) AF: 0.306 AC: 90 AN: 294

European-Non Finnish (NFE) AF: 0.283 AC: 19266 AN: 68000

Other (OTH) AF: 0.409 AC: 865 AN: 2114

Alfa AF: 0.310 Hom.: 4711

Bravo AF: 0.437

Asia WGS AF: 0.514 AC: 1787 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.59
DANN	Benign	0.40
PhyloP100		-0.64

Splicing

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

Other links and lift over

dbSNP: rs7756332; hg19: chr6-211941;