8-13041297-C-T

Variant names:

• chr8-13041297-C-T
• rs713536

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 0.353 in 151,854 control chromosomes in the GnomAD database, including 11,564 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 0.35 (11564 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.17
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.47 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: 0.354 AC: 53644 AN: 151736 Hom.: 11565 Cov.: 31

Gnomad AFR AF: 0.109

Gnomad AMI AF: 0.440

Gnomad AMR AF: 0.320

Gnomad ASJ AF: 0.553

Gnomad EAS AF: 0.312

Gnomad SAS AF: 0.433

Gnomad FIN AF: 0.491

Gnomad MID AF: 0.551

Gnomad NFE AF: 0.474

Gnomad OTH AF: 0.366

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

GnomAD4 genome AF: 0.353 AC: 53630 AN: 151854 Hom.: 11564 Cov.: 31 AF XY: 0.357 AC XY: 26483 AN XY: 74226

African (AFR) AF: 0.108 AC: 4497 AN: 41448

American (AMR) AF: 0.319 AC: 4866 AN: 15248

Ashkenazi Jewish (ASJ) AF: 0.553 AC: 1915 AN: 3464

East Asian (EAS) AF: 0.312 AC: 1608 AN: 5152

South Asian (SAS) AF: 0.432 AC: 2068 AN: 4784

European-Finnish (FIN) AF: 0.491 AC: 5167 AN: 10532

Middle Eastern (MID) AF: 0.558 AC: 164 AN: 294

European-Non Finnish (NFE) AF: 0.474 AC: 32187 AN: 67928

Other (OTH) AF: 0.362 AC: 762 AN: 2104

Alfa AF: 0.419 Hom.: 20318

Bravo AF: 0.328

Asia WGS AF: 0.320 AC: 1115 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.94
DANN	Benign	0.50
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs713536; hg19: chr8-12898806;