rs4711209

Variant names:

• chr6-30079626-G-A
• rs4711209

Your query was ambiguous. Multiple possible variants found:

• chr6-30079626-G-A
• chr6-30079626-G-C

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 0.232 in 152,156 control chromosomes in the GnomAD database, including 4,582 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 0.23 (4582 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.420
• Publications: 25 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.282 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: 0.232 AC: 35251 AN: 152038 Hom.: 4582 Cov.: 32

Gnomad AFR AF: 0.127

Gnomad AMI AF: 0.291

Gnomad AMR AF: 0.231

Gnomad ASJ AF: 0.166

Gnomad EAS AF: 0.293

Gnomad SAS AF: 0.162

Gnomad FIN AF: 0.358

Gnomad MID AF: 0.199

Gnomad NFE AF: 0.280

Gnomad OTH AF: 0.209

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

GnomAD4 genome AF: 0.232 AC: 35247 AN: 152156 Hom.: 4582 Cov.: 32 AF XY: 0.232 AC XY: 17294 AN XY: 74386

African (AFR) AF: 0.127 AC: 5285 AN: 41504

American (AMR) AF: 0.230 AC: 3524 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.166 AC: 575 AN: 3470

East Asian (EAS) AF: 0.294 AC: 1523 AN: 5184

South Asian (SAS) AF: 0.161 AC: 774 AN: 4820

European-Finnish (FIN) AF: 0.358 AC: 3789 AN: 10582

Middle Eastern (MID) AF: 0.197 AC: 58 AN: 294

European-Non Finnish (NFE) AF: 0.280 AC: 19017 AN: 67986

Other (OTH) AF: 0.207 AC: 437 AN: 2114

Alfa AF: 0.256 Hom.: 14209

Bravo AF: 0.220

Asia WGS AF: 0.189 AC: 656 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	1.3
DANN	Benign	0.31
PhyloP100		-0.42

Splicing

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

Other links and lift over

dbSNP: rs4711209; hg19: chr6-30047403;