rs6918223

Variant names:

• chr6-32754755-A-C
• rs6918223

Your query was ambiguous. Multiple possible variants found:

• chr6-32754755-A-C
• chr6-32754755-A-G
• chr6-32754755-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 0.499 in 151,924 control chromosomes in the GnomAD database, including 19,779 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 0.50 (19779 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.51
• Publications: 24 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.79 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.498 AC: 75667 AN: 151806 Hom.: 19749 Cov.: 31

Gnomad AFR AF: 0.389

Gnomad AMI AF: 0.687

Gnomad AMR AF: 0.553

Gnomad ASJ AF: 0.557

Gnomad EAS AF: 0.810

Gnomad SAS AF: 0.683

Gnomad FIN AF: 0.577

Gnomad MID AF: 0.630

Gnomad NFE AF: 0.497

Gnomad OTH AF: 0.522

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

GnomAD4 genome AF: 0.499 AC: 75757 AN: 151924 Hom.: 19779 Cov.: 31 AF XY: 0.509 AC XY: 37763 AN XY: 74262

African (AFR) AF: 0.389 AC: 16131 AN: 41428

American (AMR) AF: 0.553 AC: 8442 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.557 AC: 1934 AN: 3470

East Asian (EAS) AF: 0.810 AC: 4183 AN: 5162

South Asian (SAS) AF: 0.682 AC: 3288 AN: 4818

European-Finnish (FIN) AF: 0.577 AC: 6088 AN: 10552

Middle Eastern (MID) AF: 0.643 AC: 189 AN: 294

European-Non Finnish (NFE) AF: 0.497 AC: 33762 AN: 67918

Other (OTH) AF: 0.529 AC: 1115 AN: 2108

Alfa AF: 0.498 Hom.: 65435

Bravo AF: 0.491

Asia WGS AF: 0.705 AC: 2445 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.16
DANN	Benign	0.59
PhyloP100		-1.5

Splicing

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

Other links and lift over

dbSNP: rs6918223; hg19: chr6-32722532;