rs1799762

Variant names:

• chr7-101126425-T-TG
• rs1799762

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1

No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.56 (24951 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.386

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.732 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: 0.558 AC: 84640 AN: 151736 Hom.: 24889 Cov.: 0

Gnomad AFR AF: 0.738

Gnomad AMI AF: 0.378

Gnomad AMR AF: 0.635

Gnomad ASJ AF: 0.473

Gnomad EAS AF: 0.422

Gnomad SAS AF: 0.498

Gnomad FIN AF: 0.491

Gnomad MID AF: 0.636

Gnomad NFE AF: 0.461

Gnomad OTH AF: 0.578

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

GnomAD4 genome AF: 0.558 AC: 84764 AN: 151852 Hom.: 24951 Cov.: 0 AF XY: 0.560 AC XY: 41547 AN XY: 74196

Gnomad4 AFR AF: 0.739

Gnomad4 AMR AF: 0.635

Gnomad4 ASJ AF: 0.473

Gnomad4 EAS AF: 0.423

Gnomad4 SAS AF: 0.498

Gnomad4 FIN AF: 0.491

Gnomad4 NFE AF: 0.461

Gnomad4 OTH AF: 0.581

Alfa AF: 0.515 Hom.: 2577

Bravo AF: 0.574

Asia WGS AF: 0.531 AC: 1834 AN: 3454

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1799762; hg19: chr7-100769706;