rs10276128

Variant names:

• chr7-8819582-C-G
• rs10276128

Your query was ambiguous. Multiple possible variants found:

• chr7-8819582-C-G
• chr7-8819582-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 0.421 in 151,298 control chromosomes in the GnomAD database, including 13,846 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 0.42 (13846 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.13
• Publications: 0 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.453 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: 0.420 AC: 63563 AN: 151176 Hom.: 13816 Cov.: 31

Gnomad AFR AF: 0.458

Gnomad AMI AF: 0.330

Gnomad AMR AF: 0.459

Gnomad ASJ AF: 0.464

Gnomad EAS AF: 0.423

Gnomad SAS AF: 0.369

Gnomad FIN AF: 0.422

Gnomad MID AF: 0.455

Gnomad NFE AF: 0.391

Gnomad OTH AF: 0.431

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

GnomAD4 genome AF: 0.421 AC: 63648 AN: 151298 Hom.: 13846 Cov.: 31 AF XY: 0.420 AC XY: 31049 AN XY: 73910

African (AFR) AF: 0.458 AC: 18929 AN: 41308

American (AMR) AF: 0.460 AC: 6994 AN: 15206

Ashkenazi Jewish (ASJ) AF: 0.464 AC: 1607 AN: 3460

East Asian (EAS) AF: 0.423 AC: 2167 AN: 5118

South Asian (SAS) AF: 0.369 AC: 1749 AN: 4734

European-Finnish (FIN) AF: 0.422 AC: 4440 AN: 10512

Middle Eastern (MID) AF: 0.449 AC: 131 AN: 292

European-Non Finnish (NFE) AF: 0.391 AC: 26426 AN: 67662

Other (OTH) AF: 0.431 AC: 906 AN: 2100

Alfa AF: 0.227 Hom.: 445

Bravo AF: 0.430

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	4.3
DANN	Benign	0.40
PhyloP100		1.1

Splicing

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

Other links and lift over

dbSNP: rs10276128; hg19: chr7-8859212;