rs6930229

Variant names:

• chr6-159862407-A-C
• rs6930229

Your query was ambiguous. Multiple possible variants found:

• chr6-159862407-A-C
• chr6-159862407-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 0.637 in 151,962 control chromosomes in the GnomAD database, including 31,180 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 0.64 (31180 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.08

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.672 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: 0.637 AC: 96767 AN: 151846 Hom.: 31175 Cov.: 31

Gnomad AFR AF: 0.633

Gnomad AMI AF: 0.555

Gnomad AMR AF: 0.597

Gnomad ASJ AF: 0.670

Gnomad EAS AF: 0.346

Gnomad SAS AF: 0.656

Gnomad FIN AF: 0.580

Gnomad MID AF: 0.734

Gnomad NFE AF: 0.677

Gnomad OTH AF: 0.661

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

GnomAD4 genome AF: 0.637 AC: 96798 AN: 151962 Hom.: 31180 Cov.: 31 AF XY: 0.629 AC XY: 46734 AN XY: 74272

Gnomad4 AFR AF: 0.633

Gnomad4 AMR AF: 0.596

Gnomad4 ASJ AF: 0.670

Gnomad4 EAS AF: 0.346

Gnomad4 SAS AF: 0.656

Gnomad4 FIN AF: 0.580

Gnomad4 NFE AF: 0.677

Gnomad4 OTH AF: 0.655

Alfa AF: 0.658 Hom.: 16575

Bravo AF: 0.636

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.64
DANN	Benign	0.32

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6930229; hg19: chr6-160283439;