6-84835792-C-G

Variant names:

• chr6-84835792-C-G
• rs6921115

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 0.309 in 151,978 control chromosomes in the GnomAD database, including 7,691 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 0.31 (7691 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.627
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.473 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.309 AC: 46872 AN: 151860 Hom.: 7665 Cov.: 32

Gnomad AFR AF: 0.377

Gnomad AMI AF: 0.123

Gnomad AMR AF: 0.382

Gnomad ASJ AF: 0.203

Gnomad EAS AF: 0.488

Gnomad SAS AF: 0.237

Gnomad FIN AF: 0.302

Gnomad MID AF: 0.142

Gnomad NFE AF: 0.252

Gnomad OTH AF: 0.292

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

GnomAD4 genome AF: 0.309 AC: 46962 AN: 151978 Hom.: 7691 Cov.: 32 AF XY: 0.313 AC XY: 23237 AN XY: 74274

African (AFR) AF: 0.378 AC: 15639 AN: 41426

American (AMR) AF: 0.383 AC: 5842 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.203 AC: 703 AN: 3468

East Asian (EAS) AF: 0.489 AC: 2514 AN: 5142

South Asian (SAS) AF: 0.236 AC: 1139 AN: 4820

European-Finnish (FIN) AF: 0.302 AC: 3194 AN: 10562

Middle Eastern (MID) AF: 0.150 AC: 44 AN: 294

European-Non Finnish (NFE) AF: 0.252 AC: 17158 AN: 67980

Other (OTH) AF: 0.292 AC: 617 AN: 2114

Alfa AF: 0.287 Hom.: 860

Bravo AF: 0.322

Asia WGS AF: 0.355 AC: 1237 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.29
DANN	Benign	0.61
PhyloP100		-0.63

Splicing

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

Other links and lift over

dbSNP: rs6921115; hg19: chr6-85545510;