rs1375785

Variant names:

• chr8-83078996-A-C
• rs1375785

Your query was ambiguous. Multiple possible variants found:

• chr8-83078996-A-C
• chr8-83078996-A-G
• chr8-83078996-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 0.854 in 152,046 control chromosomes in the GnomAD database, including 55,698 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 0.85 (55698 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.84
• Publications: 12 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.04).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.881 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: 0.854 AC: 129776 AN: 151928 Hom.: 55661 Cov.: 31

Gnomad AFR AF: 0.796

Gnomad AMI AF: 0.834

Gnomad AMR AF: 0.857

Gnomad ASJ AF: 0.782

Gnomad EAS AF: 0.836

Gnomad SAS AF: 0.785

Gnomad FIN AF: 0.934

Gnomad MID AF: 0.867

Gnomad NFE AF: 0.887

Gnomad OTH AF: 0.855

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

GnomAD4 genome AF: 0.854 AC: 129867 AN: 152046 Hom.: 55698 Cov.: 31 AF XY: 0.855 AC XY: 63557 AN XY: 74306

African (AFR) AF: 0.796 AC: 32995 AN: 41446

American (AMR) AF: 0.857 AC: 13062 AN: 15248

Ashkenazi Jewish (ASJ) AF: 0.782 AC: 2714 AN: 3470

East Asian (EAS) AF: 0.835 AC: 4300 AN: 5150

South Asian (SAS) AF: 0.786 AC: 3787 AN: 4820

European-Finnish (FIN) AF: 0.934 AC: 9890 AN: 10594

Middle Eastern (MID) AF: 0.881 AC: 259 AN: 294

European-Non Finnish (NFE) AF: 0.887 AC: 60296 AN: 68002

Other (OTH) AF: 0.855 AC: 1805 AN: 2112

Alfa AF: 0.874 Hom.: 161873

Bravo AF: 0.846

Asia WGS AF: 0.826 AC: 2873 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.12
DANN	Benign	0.42
PhyloP100		-1.8

Splicing

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

Other links and lift over

dbSNP: rs1375785; hg19: chr8-83991231;