rs13272568

Variant names:

• chr8-78122224-C-A
• rs13272568

Your query was ambiguous. Multiple possible variants found:

• chr8-78122224-C-A
• chr8-78122224-C-G

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 0.442 in 151,878 control chromosomes in the GnomAD database, including 15,351 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 0.44 (15351 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.525
• Publications: 9 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.509 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: 0.442 AC: 67057 AN: 151760 Hom.: 15323 Cov.: 32

Gnomad AFR AF: 0.515

Gnomad AMI AF: 0.426

Gnomad AMR AF: 0.342

Gnomad ASJ AF: 0.503

Gnomad EAS AF: 0.133

Gnomad SAS AF: 0.369

Gnomad FIN AF: 0.431

Gnomad MID AF: 0.401

Gnomad NFE AF: 0.448

Gnomad OTH AF: 0.434

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

GnomAD4 genome AF: 0.442 AC: 67127 AN: 151878 Hom.: 15351 Cov.: 32 AF XY: 0.435 AC XY: 32289 AN XY: 74214

African (AFR) AF: 0.515 AC: 21348 AN: 41440

American (AMR) AF: 0.342 AC: 5203 AN: 15232

Ashkenazi Jewish (ASJ) AF: 0.503 AC: 1747 AN: 3470

East Asian (EAS) AF: 0.132 AC: 684 AN: 5174

South Asian (SAS) AF: 0.367 AC: 1772 AN: 4822

European-Finnish (FIN) AF: 0.431 AC: 4549 AN: 10558

Middle Eastern (MID) AF: 0.403 AC: 117 AN: 290

European-Non Finnish (NFE) AF: 0.448 AC: 30405 AN: 67874

Other (OTH) AF: 0.434 AC: 915 AN: 2110

Alfa AF: 0.419 Hom.: 7463

Bravo AF: 0.437

Asia WGS AF: 0.322 AC: 1123 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.17
DANN	Benign	0.24
PhyloP100		-0.53

Splicing

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

Other links and lift over

dbSNP: rs13272568; hg19: chr8-79034459;