rs4245330

Variant names:

• chr13-44087185-C-G
• rs4245330

Your query was ambiguous. Multiple possible variants found:

• chr13-44087185-C-G
• chr13-44087185-C-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 0.691 in 151,872 control chromosomes in the GnomAD database, including 37,872 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 0.69 (37872 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.372
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.796 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: 0.692 AC: 104961 AN: 151754 Hom.: 37859 Cov.: 31

Gnomad AFR AF: 0.495

Gnomad AMI AF: 0.916

Gnomad AMR AF: 0.807

Gnomad ASJ AF: 0.766

Gnomad EAS AF: 0.432

Gnomad SAS AF: 0.544

Gnomad FIN AF: 0.748

Gnomad MID AF: 0.771

Gnomad NFE AF: 0.797

Gnomad OTH AF: 0.744

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

GnomAD4 genome AF: 0.691 AC: 105004 AN: 151872 Hom.: 37872 Cov.: 31 AF XY: 0.687 AC XY: 50972 AN XY: 74228

African (AFR) AF: 0.495 AC: 20469 AN: 41356

American (AMR) AF: 0.808 AC: 12327 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.766 AC: 2656 AN: 3468

East Asian (EAS) AF: 0.431 AC: 2219 AN: 5148

South Asian (SAS) AF: 0.545 AC: 2617 AN: 4798

European-Finnish (FIN) AF: 0.748 AC: 7881 AN: 10542

Middle Eastern (MID) AF: 0.771 AC: 225 AN: 292

European-Non Finnish (NFE) AF: 0.797 AC: 54211 AN: 67980

Other (OTH) AF: 0.741 AC: 1564 AN: 2112

Alfa AF: 0.693 Hom.: 2288

Bravo AF: 0.692

Asia WGS AF: 0.495 AC: 1726 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.37
DANN	Benign	0.41
PhyloP100		-0.37

Splicing

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

Other links and lift over

dbSNP: rs4245330; hg19: chr13-44661321;