rs7083625

Variant names:

• chr10-80029081-C-A
• rs7083625

Your query was ambiguous. Multiple possible variants found:

• chr10-80029081-C-A
• chr10-80029081-C-G
• chr10-80029081-C-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 0.449 in 151,306 control chromosomes in the GnomAD database, including 15,773 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 0.45 (15773 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.781
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.505 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: 0.449 AC: 67815 AN: 151188 Hom.: 15755 Cov.: 30

Gnomad AFR AF: 0.438

Gnomad AMI AF: 0.583

Gnomad AMR AF: 0.303

Gnomad ASJ AF: 0.395

Gnomad EAS AF: 0.518

Gnomad SAS AF: 0.521

Gnomad FIN AF: 0.513

Gnomad MID AF: 0.462

Gnomad NFE AF: 0.469

Gnomad OTH AF: 0.412

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

GnomAD4 genome AF: 0.449 AC: 67881 AN: 151306 Hom.: 15773 Cov.: 30 AF XY: 0.448 AC XY: 33099 AN XY: 73916

African (AFR) AF: 0.438 AC: 18062 AN: 41240

American (AMR) AF: 0.302 AC: 4582 AN: 15166

Ashkenazi Jewish (ASJ) AF: 0.395 AC: 1364 AN: 3454

East Asian (EAS) AF: 0.518 AC: 2669 AN: 5148

South Asian (SAS) AF: 0.522 AC: 2504 AN: 4798

European-Finnish (FIN) AF: 0.513 AC: 5357 AN: 10440

Middle Eastern (MID) AF: 0.469 AC: 138 AN: 294

European-Non Finnish (NFE) AF: 0.470 AC: 31843 AN: 67814

Other (OTH) AF: 0.412 AC: 861 AN: 2092

Alfa AF: 0.454 Hom.: 61991

Bravo AF: 0.430

Asia WGS AF: 0.498 AC: 1733 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.69
DANN	Benign	0.54
PhyloP100		-0.78

Splicing

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

Other links and lift over

dbSNP: rs7083625; hg19: chr10-81788837;