rs1369887

Variant names:

• chr8-31467803-A-C
• rs1369887

Your query was ambiguous. Multiple possible variants found:

• chr8-31467803-A-C
• chr8-31467803-A-G
• chr8-31467803-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 0.721 in 152,056 control chromosomes in the GnomAD database, including 39,690 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 0.72 (39690 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.207

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.762 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: 0.721 AC: 109526 AN: 151938 Hom.: 39653 Cov.: 32

Gnomad AFR AF: 0.770

Gnomad AMI AF: 0.868

Gnomad AMR AF: 0.701

Gnomad ASJ AF: 0.732

Gnomad EAS AF: 0.606

Gnomad SAS AF: 0.650

Gnomad FIN AF: 0.754

Gnomad MID AF: 0.677

Gnomad NFE AF: 0.703

Gnomad OTH AF: 0.694

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

GnomAD4 genome AF: 0.721 AC: 109622 AN: 152056 Hom.: 39690 Cov.: 32 AF XY: 0.721 AC XY: 53594 AN XY: 74322

Gnomad4 AFR AF: 0.769

Gnomad4 AMR AF: 0.702

Gnomad4 ASJ AF: 0.732

Gnomad4 EAS AF: 0.607

Gnomad4 SAS AF: 0.649

Gnomad4 FIN AF: 0.754

Gnomad4 NFE AF: 0.703

Gnomad4 OTH AF: 0.694

Alfa AF: 0.692 Hom.: 17010

Bravo AF: 0.723

Asia WGS AF: 0.602 AC: 2096 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	6.6
DANN	Benign	0.46

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1369887; hg19: chr8-31325319;