rs6930903

Variant names:

• chr6-29013467-A-G
• rs6930903

Your query was ambiguous. Multiple possible variants found:

• chr6-29013467-A-G
• chr6-29013467-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 0.344 in 151,968 control chromosomes in the GnomAD database, including 10,415 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 0.34 (10415 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.373
• Publications: 19 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 (AFR) allele frequency at 95% confidence interval = 0.545 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: 0.344 AC: 52167 AN: 151848 Hom.: 10395 Cov.: 32

Gnomad AFR AF: 0.550

Gnomad AMI AF: 0.208

Gnomad AMR AF: 0.293

Gnomad ASJ AF: 0.381

Gnomad EAS AF: 0.226

Gnomad SAS AF: 0.357

Gnomad FIN AF: 0.289

Gnomad MID AF: 0.266

Gnomad NFE AF: 0.246

Gnomad OTH AF: 0.341

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

GnomAD4 genome AF: 0.344 AC: 52226 AN: 151968 Hom.: 10415 Cov.: 32 AF XY: 0.346 AC XY: 25670 AN XY: 74264

African (AFR) AF: 0.551 AC: 22797 AN: 41410

American (AMR) AF: 0.293 AC: 4476 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.381 AC: 1321 AN: 3470

East Asian (EAS) AF: 0.225 AC: 1161 AN: 5160

South Asian (SAS) AF: 0.356 AC: 1715 AN: 4814

European-Finnish (FIN) AF: 0.289 AC: 3050 AN: 10536

Middle Eastern (MID) AF: 0.255 AC: 75 AN: 294

European-Non Finnish (NFE) AF: 0.246 AC: 16729 AN: 67994

Other (OTH) AF: 0.338 AC: 712 AN: 2108

Alfa AF: 0.307 Hom.: 12444

Bravo AF: 0.356

Asia WGS AF: 0.278 AC: 970 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	1.3
DANN	Benign	0.65
PhyloP100		-0.37

Splicing

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

Other links and lift over

dbSNP: rs6930903; hg19: chr6-28981244;