rs1356752

Variant names:

• chr8-49438311-A-G
• rs1356752

Your query was ambiguous. Multiple possible variants found:

• chr8-49438311-A-G
• chr8-49438311-A-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 0.803 in 151,922 control chromosomes in the GnomAD database, including 53,091 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 0.80 (53091 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.28
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.95 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: 0.803 AC: 121944 AN: 151804 Hom.: 53083 Cov.: 32

Gnomad AFR AF: 0.428

Gnomad AMI AF: 0.988

Gnomad AMR AF: 0.903

Gnomad ASJ AF: 0.938

Gnomad EAS AF: 0.973

Gnomad SAS AF: 0.952

Gnomad FIN AF: 0.959

Gnomad MID AF: 0.896

Gnomad NFE AF: 0.950

Gnomad OTH AF: 0.839

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

GnomAD4 genome AF: 0.803 AC: 121984 AN: 151922 Hom.: 53091 Cov.: 32 AF XY: 0.808 AC XY: 60050 AN XY: 74294

African (AFR) AF: 0.428 AC: 17689 AN: 41366

American (AMR) AF: 0.903 AC: 13777 AN: 15254

Ashkenazi Jewish (ASJ) AF: 0.938 AC: 3249 AN: 3464

East Asian (EAS) AF: 0.973 AC: 5029 AN: 5170

South Asian (SAS) AF: 0.952 AC: 4585 AN: 4816

European-Finnish (FIN) AF: 0.959 AC: 10149 AN: 10588

Middle Eastern (MID) AF: 0.895 AC: 263 AN: 294

European-Non Finnish (NFE) AF: 0.950 AC: 64569 AN: 67948

Other (OTH) AF: 0.840 AC: 1773 AN: 2110

Alfa AF: 0.776 Hom.: 15806

Bravo AF: 0.783

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.38
DANN	Benign	0.45
PhyloP100		-1.3

Splicing

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

Other links and lift over

dbSNP: rs1356752; hg19: chr8-50350870;