rs1931621

Variant names:

• chr6-81830411-A-G
• rs1931621

Your query was ambiguous. Multiple possible variants found:

• chr6-81830411-A-G
• chr6-81830411-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 0.332 in 152,040 control chromosomes in the GnomAD database, including 9,203 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 0.33 (9203 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0560
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.401 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: 0.331 AC: 50360 AN: 151920 Hom.: 9193 Cov.: 32

Gnomad AFR AF: 0.197

Gnomad AMI AF: 0.289

Gnomad AMR AF: 0.256

Gnomad ASJ AF: 0.412

Gnomad EAS AF: 0.394

Gnomad SAS AF: 0.387

Gnomad FIN AF: 0.416

Gnomad MID AF: 0.320

Gnomad NFE AF: 0.405

Gnomad OTH AF: 0.317

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

GnomAD4 genome AF: 0.332 AC: 50403 AN: 152040 Hom.: 9203 Cov.: 32 AF XY: 0.332 AC XY: 24693 AN XY: 74318

African (AFR) AF: 0.198 AC: 8210 AN: 41492

American (AMR) AF: 0.256 AC: 3913 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.412 AC: 1430 AN: 3470

East Asian (EAS) AF: 0.394 AC: 2033 AN: 5156

South Asian (SAS) AF: 0.389 AC: 1871 AN: 4808

European-Finnish (FIN) AF: 0.416 AC: 4398 AN: 10574

Middle Eastern (MID) AF: 0.313 AC: 92 AN: 294

European-Non Finnish (NFE) AF: 0.405 AC: 27531 AN: 67936

Other (OTH) AF: 0.313 AC: 662 AN: 2112

Alfa AF: 0.223 Hom.: 547

Bravo AF: 0.313

Asia WGS AF: 0.359 AC: 1249 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	0.35
DANN	Benign	0.69
PhyloP100		0.056

Splicing

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

Other links and lift over

dbSNP: rs1931621; hg19: chr6-82540128;