rs1799762

Positions:

• chr7-101126425-T-TG

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/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	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;