8-130758976-T-C

Variant names:

• chr8-130758976-T-C
• rs11786743

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 0.153 in 152,192 control chromosomes in the GnomAD database, including 1,965 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 0.15 (1965 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.681
• Publications: 4 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 (NFE) allele frequency at 95% confidence interval = 0.19 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: 0.153 AC: 23220 AN: 152074 Hom.: 1966 Cov.: 32

Gnomad AFR AF: 0.113

Gnomad AMI AF: 0.148

Gnomad AMR AF: 0.140

Gnomad ASJ AF: 0.196

Gnomad EAS AF: 0.00366

Gnomad SAS AF: 0.0611

Gnomad FIN AF: 0.174

Gnomad MID AF: 0.187

Gnomad NFE AF: 0.192

Gnomad OTH AF: 0.146

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

GnomAD4 genome AF: 0.153 AC: 23222 AN: 152192 Hom.: 1965 Cov.: 32 AF XY: 0.150 AC XY: 11153 AN XY: 74420

African (AFR) AF: 0.113 AC: 4671 AN: 41516

American (AMR) AF: 0.140 AC: 2136 AN: 15294

Ashkenazi Jewish (ASJ) AF: 0.196 AC: 680 AN: 3472

East Asian (EAS) AF: 0.00367 AC: 19 AN: 5174

South Asian (SAS) AF: 0.0609 AC: 294 AN: 4824

European-Finnish (FIN) AF: 0.174 AC: 1847 AN: 10596

Middle Eastern (MID) AF: 0.177 AC: 52 AN: 294

European-Non Finnish (NFE) AF: 0.192 AC: 13083 AN: 68008

Other (OTH) AF: 0.145 AC: 305 AN: 2104

Alfa AF: 0.172 Hom.: 4515

Bravo AF: 0.148

Asia WGS AF: 0.0370 AC: 128 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	6.1
DANN	Benign	0.79
PhyloP100		0.68

Splicing

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

Other links and lift over

dbSNP: rs11786743; hg19: chr8-131771222;