rs94967

Variant names:

• chr21-39823380-G-A
• rs94967

Your query was ambiguous. Multiple possible variants found:

• chr21-39823380-G-A
• chr21-39823380-G-C
• chr21-39823380-G-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 0.809 in 152,122 control chromosomes in the GnomAD database, including 49,981 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 0.81 (49981 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.781
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.838 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.809 AC: 122972 AN: 152004 Hom.: 49919 Cov.: 32

Gnomad AFR AF: 0.845

Gnomad AMI AF: 0.720

Gnomad AMR AF: 0.838

Gnomad ASJ AF: 0.746

Gnomad EAS AF: 0.686

Gnomad SAS AF: 0.731

Gnomad FIN AF: 0.773

Gnomad MID AF: 0.725

Gnomad NFE AF: 0.806

Gnomad OTH AF: 0.792

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

GnomAD4 genome AF: 0.809 AC: 123097 AN: 152122 Hom.: 49981 Cov.: 32 AF XY: 0.806 AC XY: 59928 AN XY: 74340

African (AFR) AF: 0.845 AC: 35072 AN: 41504

American (AMR) AF: 0.838 AC: 12814 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.746 AC: 2589 AN: 3470

East Asian (EAS) AF: 0.686 AC: 3541 AN: 5160

South Asian (SAS) AF: 0.732 AC: 3524 AN: 4816

European-Finnish (FIN) AF: 0.773 AC: 8177 AN: 10578

Middle Eastern (MID) AF: 0.731 AC: 215 AN: 294

European-Non Finnish (NFE) AF: 0.806 AC: 54833 AN: 67992

Other (OTH) AF: 0.794 AC: 1677 AN: 2112

Alfa AF: 0.810 Hom.: 8142

Bravo AF: 0.816

Asia WGS AF: 0.728 AC: 2537 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.1
DANN	Benign	0.47
PhyloP100		-0.78

Splicing

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

Other links and lift over

dbSNP: rs94967; hg19: chr21-41195307;