8-127527115-T-G

Variant names:

• chr8-127527115-T-G
• rs7837688

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 0.908 in 152,220 control chromosomes in the GnomAD database, including 62,798 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 0.91 (62798 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.175
• Publications: 68 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.933 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: 0.908 AC: 138061 AN: 152102 Hom.: 62750 Cov.: 32

Gnomad AFR AF: 0.941

Gnomad AMI AF: 0.902

Gnomad AMR AF: 0.926

Gnomad ASJ AF: 0.940

Gnomad EAS AF: 0.853

Gnomad SAS AF: 0.859

Gnomad FIN AF: 0.836

Gnomad MID AF: 0.955

Gnomad NFE AF: 0.900

Gnomad OTH AF: 0.919

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

GnomAD4 genome AF: 0.908 AC: 138169 AN: 152220 Hom.: 62798 Cov.: 32 AF XY: 0.905 AC XY: 67356 AN XY: 74410

African (AFR) AF: 0.941 AC: 39064 AN: 41530

American (AMR) AF: 0.926 AC: 14166 AN: 15298

Ashkenazi Jewish (ASJ) AF: 0.940 AC: 3264 AN: 3472

East Asian (EAS) AF: 0.853 AC: 4415 AN: 5174

South Asian (SAS) AF: 0.859 AC: 4144 AN: 4822

European-Finnish (FIN) AF: 0.836 AC: 8843 AN: 10584

Middle Eastern (MID) AF: 0.969 AC: 283 AN: 292

European-Non Finnish (NFE) AF: 0.900 AC: 61232 AN: 68024

Other (OTH) AF: 0.916 AC: 1935 AN: 2112

Alfa AF: 0.902 Hom.: 215867

Bravo AF: 0.916

Asia WGS AF: 0.835 AC: 2905 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	2.2
DANN	Benign	0.43
PhyloP100		-0.17

Splicing

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

Other links and lift over

dbSNP: rs7837688; hg19: chr8-128539360;