rs1376184

Variant names:

• chr4-17366912-A-G
• rs1376184

Your query was ambiguous. Multiple possible variants found:

• chr4-17366912-A-G
• chr4-17366912-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 0.899 in 152,178 control chromosomes in the GnomAD database, including 61,970 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 0.90 (61970 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.458
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.954 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: 0.899 AC: 136743 AN: 152060 Hom.: 61911 Cov.: 31

Gnomad AFR AF: 0.804

Gnomad AMI AF: 0.949

Gnomad AMR AF: 0.922

Gnomad ASJ AF: 0.965

Gnomad EAS AF: 0.744

Gnomad SAS AF: 0.939

Gnomad FIN AF: 0.873

Gnomad MID AF: 0.965

Gnomad NFE AF: 0.960

Gnomad OTH AF: 0.915

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

GnomAD4 genome AF: 0.899 AC: 136861 AN: 152178 Hom.: 61970 Cov.: 31 AF XY: 0.896 AC XY: 66690 AN XY: 74396

African (AFR) AF: 0.805 AC: 33387 AN: 41500

American (AMR) AF: 0.922 AC: 14100 AN: 15300

Ashkenazi Jewish (ASJ) AF: 0.965 AC: 3351 AN: 3472

East Asian (EAS) AF: 0.745 AC: 3842 AN: 5158

South Asian (SAS) AF: 0.940 AC: 4533 AN: 4822

European-Finnish (FIN) AF: 0.873 AC: 9244 AN: 10588

Middle Eastern (MID) AF: 0.963 AC: 283 AN: 294

European-Non Finnish (NFE) AF: 0.960 AC: 65327 AN: 68026

Other (OTH) AF: 0.916 AC: 1932 AN: 2110

Alfa AF: 0.909 Hom.: 8327

Bravo AF: 0.894

Asia WGS AF: 0.865 AC: 3008 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.73
DANN	Benign	0.62
PhyloP100		-0.46

Splicing

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

Other links and lift over

dbSNP: rs1376184; hg19: chr4-17368535;