rs6471335

Variant names:

• chr8-92235134-G-A
• rs6471335

Your query was ambiguous. Multiple possible variants found:

• chr8-92235134-G-A
• chr8-92235134-G-C

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 0.28 in 152,040 control chromosomes in the GnomAD database, including 6,012 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 0.28 (6012 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.47
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.61).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.358 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.280 AC: 42499 AN: 151922 Hom.: 6008 Cov.: 32

Gnomad AFR AF: 0.275

Gnomad AMI AF: 0.332

Gnomad AMR AF: 0.366

Gnomad ASJ AF: 0.229

Gnomad EAS AF: 0.260

Gnomad SAS AF: 0.214

Gnomad FIN AF: 0.247

Gnomad MID AF: 0.256

Gnomad NFE AF: 0.277

Gnomad OTH AF: 0.273

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

GnomAD4 genome AF: 0.280 AC: 42520 AN: 152040 Hom.: 6012 Cov.: 32 AF XY: 0.279 AC XY: 20705 AN XY: 74324

African (AFR) AF: 0.275 AC: 11385 AN: 41462

American (AMR) AF: 0.366 AC: 5600 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.229 AC: 794 AN: 3466

East Asian (EAS) AF: 0.260 AC: 1343 AN: 5160

South Asian (SAS) AF: 0.213 AC: 1026 AN: 4816

European-Finnish (FIN) AF: 0.247 AC: 2610 AN: 10572

Middle Eastern (MID) AF: 0.269 AC: 79 AN: 294

European-Non Finnish (NFE) AF: 0.277 AC: 18811 AN: 67966

Other (OTH) AF: 0.270 AC: 569 AN: 2110

Alfa AF: 0.275 Hom.: 18384

Bravo AF: 0.287

Asia WGS AF: 0.240 AC: 834 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.61
CADD	Benign	13
DANN	Benign	0.80
PhyloP100		1.5

Splicing

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

Other links and lift over

dbSNP: rs6471335; hg19: chr8-93247362;