rs10806221

Variant names:

• chr6-81367397-A-G
• rs10806221

Your query was ambiguous. Multiple possible variants found:

• chr6-81367397-A-G
• chr6-81367397-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 0.218 in 151,540 control chromosomes in the GnomAD database, including 3,988 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 0.22 (3988 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.465
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.27 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: 0.218 AC: 32946 AN: 151426 Hom.: 3986 Cov.: 31

Gnomad AFR AF: 0.108

Gnomad AMI AF: 0.235

Gnomad AMR AF: 0.172

Gnomad ASJ AF: 0.307

Gnomad EAS AF: 0.219

Gnomad SAS AF: 0.246

Gnomad FIN AF: 0.309

Gnomad MID AF: 0.203

Gnomad NFE AF: 0.273

Gnomad OTH AF: 0.234

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

GnomAD4 genome AF: 0.218 AC: 32968 AN: 151540 Hom.: 3988 Cov.: 31 AF XY: 0.218 AC XY: 16134 AN XY: 74006

African (AFR) AF: 0.108 AC: 4458 AN: 41326

American (AMR) AF: 0.172 AC: 2614 AN: 15220

Ashkenazi Jewish (ASJ) AF: 0.307 AC: 1064 AN: 3468

East Asian (EAS) AF: 0.219 AC: 1122 AN: 5120

South Asian (SAS) AF: 0.247 AC: 1183 AN: 4786

European-Finnish (FIN) AF: 0.309 AC: 3222 AN: 10436

Middle Eastern (MID) AF: 0.214 AC: 63 AN: 294

European-Non Finnish (NFE) AF: 0.273 AC: 18537 AN: 67878

Other (OTH) AF: 0.234 AC: 491 AN: 2102

Alfa AF: 0.238 Hom.: 1799

Bravo AF: 0.201

Asia WGS AF: 0.248 AC: 861 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	5.7
DANN	Benign	0.85
PhyloP100		0.47

Splicing

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

Other links and lift over

dbSNP: rs10806221; hg19: chr6-82077114;