rs2736332

Variant names:

• chr8-11482456-G-C
• rs2736332

Your query was ambiguous. Multiple possible variants found:

• chr8-11482456-G-C
• chr8-11482456-G-T

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 0.389 in 151,980 control chromosomes in the GnomAD database, including 13,193 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 0.39 (13193 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.376
• Publications: 32 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.703 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: 0.389 AC: 59013 AN: 151862 Hom.: 13166 Cov.: 32

Gnomad AFR AF: 0.557

Gnomad AMI AF: 0.196

Gnomad AMR AF: 0.484

Gnomad ASJ AF: 0.210

Gnomad EAS AF: 0.722

Gnomad SAS AF: 0.366

Gnomad FIN AF: 0.276

Gnomad MID AF: 0.320

Gnomad NFE AF: 0.272

Gnomad OTH AF: 0.349

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

GnomAD4 genome AF: 0.389 AC: 59102 AN: 151980 Hom.: 13193 Cov.: 32 AF XY: 0.393 AC XY: 29158 AN XY: 74284

African (AFR) AF: 0.557 AC: 23061 AN: 41430

American (AMR) AF: 0.485 AC: 7408 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.210 AC: 730 AN: 3468

East Asian (EAS) AF: 0.722 AC: 3735 AN: 5172

South Asian (SAS) AF: 0.364 AC: 1751 AN: 4806

European-Finnish (FIN) AF: 0.276 AC: 2911 AN: 10560

Middle Eastern (MID) AF: 0.316 AC: 93 AN: 294

European-Non Finnish (NFE) AF: 0.272 AC: 18483 AN: 67956

Other (OTH) AF: 0.357 AC: 752 AN: 2108

Alfa AF: 0.155 Hom.: 254

Bravo AF: 0.417

Asia WGS AF: 0.574 AC: 1997 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	1.1
DANN	Benign	0.37
PhyloP100		-0.38

Splicing

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

Other links and lift over

dbSNP: rs2736332; hg19: chr8-11339965;