8-37351782-C-T

Variant names:

• chr8-37351782-C-T
• rs11785595

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 0.532 in 152,090 control chromosomes in the GnomAD database, including 23,298 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 0.53 (23298 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.173
• Publications: 0 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.63 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.532 AC: 80858 AN: 151972 Hom.: 23298 Cov.: 33

Gnomad AFR AF: 0.296

Gnomad AMI AF: 0.741

Gnomad AMR AF: 0.577

Gnomad ASJ AF: 0.702

Gnomad EAS AF: 0.467

Gnomad SAS AF: 0.623

Gnomad FIN AF: 0.636

Gnomad MID AF: 0.682

Gnomad NFE AF: 0.635

Gnomad OTH AF: 0.570

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

GnomAD4 genome AF: 0.532 AC: 80873 AN: 152090 Hom.: 23298 Cov.: 33 AF XY: 0.533 AC XY: 39620 AN XY: 74336

African (AFR) AF: 0.295 AC: 12247 AN: 41490

American (AMR) AF: 0.577 AC: 8819 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.702 AC: 2437 AN: 3472

East Asian (EAS) AF: 0.467 AC: 2410 AN: 5166

South Asian (SAS) AF: 0.622 AC: 2998 AN: 4820

European-Finnish (FIN) AF: 0.636 AC: 6721 AN: 10570

Middle Eastern (MID) AF: 0.695 AC: 203 AN: 292

European-Non Finnish (NFE) AF: 0.635 AC: 43157 AN: 67972

Other (OTH) AF: 0.570 AC: 1205 AN: 2114

Alfa AF: 0.602 Hom.: 99755

Bravo AF: 0.514

Asia WGS AF: 0.518 AC: 1803 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	1.8
DANN	Benign	0.68
PhyloP100		0.17

Splicing

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

Other links and lift over

dbSNP: rs11785595; hg19: chr8-37209300;