rs10276619

Variant names:

• chr7-50273756-G-A
• rs10276619

Your query was ambiguous. Multiple possible variants found:

• chr7-50273756-G-A
• chr7-50273756-G-C
• chr7-50273756-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 0.59 in 152,048 control chromosomes in the GnomAD database, including 27,040 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 0.59 (27040 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.794
• Publications: 28 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.708 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: 0.590 AC: 89590 AN: 151930 Hom.: 27007 Cov.: 32

Gnomad AFR AF: 0.473

Gnomad AMI AF: 0.513

Gnomad AMR AF: 0.694

Gnomad ASJ AF: 0.673

Gnomad EAS AF: 0.436

Gnomad SAS AF: 0.727

Gnomad FIN AF: 0.621

Gnomad MID AF: 0.728

Gnomad NFE AF: 0.630

Gnomad OTH AF: 0.606

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

GnomAD4 genome AF: 0.590 AC: 89673 AN: 152048 Hom.: 27040 Cov.: 32 AF XY: 0.594 AC XY: 44115 AN XY: 74298

African (AFR) AF: 0.473 AC: 19602 AN: 41438

American (AMR) AF: 0.694 AC: 10602 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.673 AC: 2335 AN: 3472

East Asian (EAS) AF: 0.436 AC: 2251 AN: 5168

South Asian (SAS) AF: 0.728 AC: 3504 AN: 4810

European-Finnish (FIN) AF: 0.621 AC: 6574 AN: 10582

Middle Eastern (MID) AF: 0.728 AC: 214 AN: 294

European-Non Finnish (NFE) AF: 0.630 AC: 42836 AN: 67974

Other (OTH) AF: 0.609 AC: 1287 AN: 2112

Alfa AF: 0.615 Hom.: 96308

Bravo AF: 0.583

Asia WGS AF: 0.640 AC: 2224 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.12
DANN	Benign	0.61
PhyloP100		-0.79

Splicing

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

Other links and lift over

dbSNP: rs10276619; hg19: chr7-50313352;