rs213212

Variant names:

• chr6-33218141-C-A
• rs213212

Your query was ambiguous. Multiple possible variants found:

• chr6-33218141-C-A
• chr6-33218141-C-G
• chr6-33218141-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 0.782 in 151,716 control chromosomes in the GnomAD database, including 46,792 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 0.78 (46792 hom., cov: 29)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.525
• Publications: 24 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.961 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: 0.782 AC: 118477 AN: 151598 Hom.: 46743 Cov.: 29

Gnomad AFR AF: 0.845

Gnomad AMI AF: 0.608

Gnomad AMR AF: 0.796

Gnomad ASJ AF: 0.842

Gnomad EAS AF: 0.984

Gnomad SAS AF: 0.908

Gnomad FIN AF: 0.712

Gnomad MID AF: 0.820

Gnomad NFE AF: 0.725

Gnomad OTH AF: 0.797

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

GnomAD4 genome AF: 0.782 AC: 118582 AN: 151716 Hom.: 46792 Cov.: 29 AF XY: 0.783 AC XY: 58085 AN XY: 74142

African (AFR) AF: 0.845 AC: 34954 AN: 41352

American (AMR) AF: 0.796 AC: 12118 AN: 15230

Ashkenazi Jewish (ASJ) AF: 0.842 AC: 2921 AN: 3468

East Asian (EAS) AF: 0.983 AC: 5063 AN: 5148

South Asian (SAS) AF: 0.908 AC: 4331 AN: 4770

European-Finnish (FIN) AF: 0.712 AC: 7505 AN: 10538

Middle Eastern (MID) AF: 0.827 AC: 243 AN: 294

European-Non Finnish (NFE) AF: 0.725 AC: 49213 AN: 67906

Other (OTH) AF: 0.800 AC: 1684 AN: 2106

Alfa AF: 0.748 Hom.: 153345

Bravo AF: 0.791

Asia WGS AF: 0.908 AC: 3157 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	1.9
DANN	Benign	0.43
PhyloP100		0.53

Splicing

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

Other links and lift over

dbSNP: rs213212; hg19: chr6-33185918;