chr7-8799087-T-G

Variant names:

• chr7-8799087-T-G
• rs6463843

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 0.569 in 151,578 control chromosomes in the GnomAD database, including 25,336 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 0.57 (25336 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.722
• Publications: 18 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.682 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: 0.569 AC: 86134 AN: 151458 Hom.: 25285 Cov.: 31

Gnomad AFR AF: 0.689

Gnomad AMI AF: 0.338

Gnomad AMR AF: 0.530

Gnomad ASJ AF: 0.585

Gnomad EAS AF: 0.633

Gnomad SAS AF: 0.615

Gnomad FIN AF: 0.542

Gnomad MID AF: 0.619

Gnomad NFE AF: 0.503

Gnomad OTH AF: 0.568

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

GnomAD4 genome AF: 0.569 AC: 86243 AN: 151578 Hom.: 25336 Cov.: 31 AF XY: 0.571 AC XY: 42278 AN XY: 74054

African (AFR) AF: 0.689 AC: 28530 AN: 41404

American (AMR) AF: 0.530 AC: 8036 AN: 15156

Ashkenazi Jewish (ASJ) AF: 0.585 AC: 2028 AN: 3466

East Asian (EAS) AF: 0.633 AC: 3242 AN: 5124

South Asian (SAS) AF: 0.615 AC: 2935 AN: 4772

European-Finnish (FIN) AF: 0.542 AC: 5714 AN: 10552

Middle Eastern (MID) AF: 0.614 AC: 178 AN: 290

European-Non Finnish (NFE) AF: 0.503 AC: 34073 AN: 67806

Other (OTH) AF: 0.572 AC: 1199 AN: 2096

Alfa AF: 0.528 Hom.: 40444

Bravo AF: 0.571

Asia WGS AF: 0.629 AC: 2179 AN: 3470

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.49
DANN	Benign	0.66
PhyloP100		-0.72

Splicing

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

Other links and lift over

dbSNP: rs6463843; hg19: chr7-8838717;