rs9321981

Variant names:

• chr6-100284403-A-G
• rs9321981

Your query was ambiguous. Multiple possible variants found:

• chr6-100284403-A-G
• chr6-100284403-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 0.158 in 152,212 control chromosomes in the GnomAD database, including 1,936 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 0.16 (1936 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0490
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.177 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: 0.158 AC: 23964 AN: 152094 Hom.: 1938 Cov.: 33

Gnomad AFR AF: 0.150

Gnomad AMI AF: 0.0482

Gnomad AMR AF: 0.182

Gnomad ASJ AF: 0.225

Gnomad EAS AF: 0.125

Gnomad SAS AF: 0.186

Gnomad FIN AF: 0.171

Gnomad MID AF: 0.253

Gnomad NFE AF: 0.153

Gnomad OTH AF: 0.154

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

GnomAD4 genome AF: 0.158 AC: 23984 AN: 152212 Hom.: 1936 Cov.: 33 AF XY: 0.160 AC XY: 11908 AN XY: 74402

African (AFR) AF: 0.150 AC: 6225 AN: 41514

American (AMR) AF: 0.182 AC: 2777 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.225 AC: 781 AN: 3470

East Asian (EAS) AF: 0.126 AC: 650 AN: 5170

South Asian (SAS) AF: 0.187 AC: 902 AN: 4828

European-Finnish (FIN) AF: 0.171 AC: 1811 AN: 10612

Middle Eastern (MID) AF: 0.252 AC: 74 AN: 294

European-Non Finnish (NFE) AF: 0.153 AC: 10400 AN: 68010

Other (OTH) AF: 0.152 AC: 320 AN: 2112

Alfa AF: 0.160 Hom.: 1105

Bravo AF: 0.156

Asia WGS AF: 0.145 AC: 504 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	1.9
DANN	Benign	0.58
PhyloP100		-0.049

Splicing

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

Other links and lift over

dbSNP: rs9321981; hg19: chr6-100732279;