rs214527

Variant names:

• chr6-18291119-A-C
• rs214527

Your query was ambiguous. Multiple possible variants found:

• chr6-18291119-A-C
• chr6-18291119-A-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.287 in 152,004 control chromosomes in the GnomAD database, including 7,218 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 0.29 (7218 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0510

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.436 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: 0.287 AC: 43587 AN: 151886 Hom.: 7201 Cov.: 32

Gnomad AFR AF: 0.441

Gnomad AMI AF: 0.364

Gnomad AMR AF: 0.350

Gnomad ASJ AF: 0.299

Gnomad EAS AF: 0.0753

Gnomad SAS AF: 0.343

Gnomad FIN AF: 0.197

Gnomad MID AF: 0.373

Gnomad NFE AF: 0.203

Gnomad OTH AF: 0.287

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

GnomAD4 genome AF: 0.287 AC: 43660 AN: 152004 Hom.: 7218 Cov.: 32 AF XY: 0.287 AC XY: 21363 AN XY: 74328

Gnomad4 AFR AF: 0.442

Gnomad4 AMR AF: 0.351

Gnomad4 ASJ AF: 0.299

Gnomad4 EAS AF: 0.0757

Gnomad4 SAS AF: 0.342

Gnomad4 FIN AF: 0.197

Gnomad4 NFE AF: 0.203

Gnomad4 OTH AF: 0.285

Alfa AF: 0.112 Hom.: 186

Bravo AF: 0.303

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	3.3
DANN	Benign	0.58

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs214527; hg19: chr6-18291350;