rs2367291

Variant names:

• chr4-73864663-A-C
• rs2367291

Your query was ambiguous. Multiple possible variants found:

• chr4-73864663-A-C
• chr4-73864663-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 0.454 in 152,028 control chromosomes in the GnomAD database, including 18,863 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 0.45 (18863 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.10
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.76 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.454 AC: 68939 AN: 151908 Hom.: 18808 Cov.: 32

Gnomad AFR AF: 0.767

Gnomad AMI AF: 0.307

Gnomad AMR AF: 0.488

Gnomad ASJ AF: 0.389

Gnomad EAS AF: 0.408

Gnomad SAS AF: 0.377

Gnomad FIN AF: 0.310

Gnomad MID AF: 0.424

Gnomad NFE AF: 0.292

Gnomad OTH AF: 0.459

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

GnomAD4 genome AF: 0.454 AC: 69054 AN: 152028 Hom.: 18863 Cov.: 32 AF XY: 0.454 AC XY: 33700 AN XY: 74306

African (AFR) AF: 0.767 AC: 31806 AN: 41482

American (AMR) AF: 0.488 AC: 7453 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.389 AC: 1352 AN: 3472

East Asian (EAS) AF: 0.409 AC: 2109 AN: 5158

South Asian (SAS) AF: 0.377 AC: 1814 AN: 4818

European-Finnish (FIN) AF: 0.310 AC: 3279 AN: 10568

Middle Eastern (MID) AF: 0.439 AC: 129 AN: 294

European-Non Finnish (NFE) AF: 0.292 AC: 19869 AN: 67960

Other (OTH) AF: 0.458 AC: 964 AN: 2104

Alfa AF: 0.471 Hom.: 7245

Bravo AF: 0.483

Asia WGS AF: 0.404 AC: 1408 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.93
DANN	Benign	0.59
PhyloP100		-1.1

Splicing

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

Other links and lift over

dbSNP: rs2367291; hg19: chr4-74730380;