rs6902233

Variant names:

• chr6-127234818-A-G
• rs6902233

Your query was ambiguous. Multiple possible variants found:

• chr6-127234818-A-G
• chr6-127234818-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 0.785 in 152,052 control chromosomes in the GnomAD database, including 47,123 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 0.79 (47123 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.232
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.845 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: 0.785 AC: 119310 AN: 151934 Hom.: 47102 Cov.: 32

Gnomad AFR AF: 0.853

Gnomad AMI AF: 0.721

Gnomad AMR AF: 0.770

Gnomad ASJ AF: 0.761

Gnomad EAS AF: 0.770

Gnomad SAS AF: 0.629

Gnomad FIN AF: 0.774

Gnomad MID AF: 0.747

Gnomad NFE AF: 0.764

Gnomad OTH AF: 0.781

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

GnomAD4 genome AF: 0.785 AC: 119375 AN: 152052 Hom.: 47123 Cov.: 32 AF XY: 0.781 AC XY: 58027 AN XY: 74332

African (AFR) AF: 0.853 AC: 35380 AN: 41500

American (AMR) AF: 0.769 AC: 11735 AN: 15252

Ashkenazi Jewish (ASJ) AF: 0.761 AC: 2639 AN: 3470

East Asian (EAS) AF: 0.769 AC: 3972 AN: 5166

South Asian (SAS) AF: 0.628 AC: 3028 AN: 4822

European-Finnish (FIN) AF: 0.774 AC: 8179 AN: 10572

Middle Eastern (MID) AF: 0.748 AC: 220 AN: 294

European-Non Finnish (NFE) AF: 0.764 AC: 51921 AN: 67958

Other (OTH) AF: 0.780 AC: 1646 AN: 2110

Alfa AF: 0.785 Hom.: 6831

Bravo AF: 0.791

Asia WGS AF: 0.701 AC: 2439 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	3.6
DANN	Benign	0.67
PhyloP100		0.23

Splicing

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

Other links and lift over

dbSNP: rs6902233; hg19: chr6-127555963;