rs7757213

Variant names:

• chr6-66286718-C-G
• rs7757213

Your query was ambiguous. Multiple possible variants found:

• chr6-66286718-C-G
• chr6-66286718-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 0.863 in 152,084 control chromosomes in the GnomAD database, including 56,854 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 0.86 (56854 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.937
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.913 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: 0.863 AC: 131114 AN: 151966 Hom.: 56791 Cov.: 31

Gnomad AFR AF: 0.921

Gnomad AMI AF: 0.932

Gnomad AMR AF: 0.812

Gnomad ASJ AF: 0.818

Gnomad EAS AF: 0.822

Gnomad SAS AF: 0.807

Gnomad FIN AF: 0.813

Gnomad MID AF: 0.861

Gnomad NFE AF: 0.855

Gnomad OTH AF: 0.859

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

GnomAD4 genome AF: 0.863 AC: 131239 AN: 152084 Hom.: 56854 Cov.: 31 AF XY: 0.858 AC XY: 63782 AN XY: 74332

African (AFR) AF: 0.921 AC: 38214 AN: 41496

American (AMR) AF: 0.812 AC: 12399 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.818 AC: 2841 AN: 3472

East Asian (EAS) AF: 0.822 AC: 4230 AN: 5148

South Asian (SAS) AF: 0.807 AC: 3889 AN: 4820

European-Finnish (FIN) AF: 0.813 AC: 8597 AN: 10578

Middle Eastern (MID) AF: 0.864 AC: 254 AN: 294

European-Non Finnish (NFE) AF: 0.855 AC: 58157 AN: 67992

Other (OTH) AF: 0.858 AC: 1808 AN: 2108

Alfa AF: 0.803 Hom.: 2434

Bravo AF: 0.869

Asia WGS AF: 0.820 AC: 2854 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.31
DANN	Benign	0.59
PhyloP100		-0.94

Splicing

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

Other links and lift over

dbSNP: rs7757213; hg19: chr6-66996611;