rs6914928

Variant names:

• chr6-94415534-G-A
• rs6914928

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 0.174 in 151,822 control chromosomes in the GnomAD database, including 2,413 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 0.17 (2413 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.12
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.58).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.226 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: 0.174 AC: 26377 AN: 151704 Hom.: 2408 Cov.: 32

Gnomad AFR AF: 0.230

Gnomad AMI AF: 0.163

Gnomad AMR AF: 0.132

Gnomad ASJ AF: 0.0623

Gnomad EAS AF: 0.234

Gnomad SAS AF: 0.143

Gnomad FIN AF: 0.170

Gnomad MID AF: 0.241

Gnomad NFE AF: 0.153

Gnomad OTH AF: 0.172

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

GnomAD4 genome AF: 0.174 AC: 26398 AN: 151822 Hom.: 2413 Cov.: 32 AF XY: 0.173 AC XY: 12818 AN XY: 74194

African (AFR) AF: 0.230 AC: 9521 AN: 41426

American (AMR) AF: 0.131 AC: 1999 AN: 15222

Ashkenazi Jewish (ASJ) AF: 0.0623 AC: 216 AN: 3466

East Asian (EAS) AF: 0.234 AC: 1200 AN: 5128

South Asian (SAS) AF: 0.142 AC: 686 AN: 4818

European-Finnish (FIN) AF: 0.170 AC: 1797 AN: 10540

Middle Eastern (MID) AF: 0.245 AC: 72 AN: 294

European-Non Finnish (NFE) AF: 0.153 AC: 10398 AN: 67906

Other (OTH) AF: 0.171 AC: 360 AN: 2110

Alfa AF: 0.157 Hom.: 1033

Bravo AF: 0.177

Asia WGS AF: 0.178 AC: 619 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.58
CADD	Benign	12
DANN	Benign	0.47
PhyloP100		2.1

Splicing

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

Other links and lift over

dbSNP: rs6914928; hg19: chr6-95125252;