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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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

Gnomad4 AFR AF: 0.150

Gnomad4 AMR AF: 0.182

Gnomad4 ASJ AF: 0.225

Gnomad4 EAS AF: 0.126

Gnomad4 SAS AF: 0.187

Gnomad4 FIN AF: 0.171

Gnomad4 NFE AF: 0.153

Gnomad4 OTH AF: 0.152

Alfa AF: 0.161 Hom.: 1014

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9321981; hg19: chr6-100732279;