rs436324

Variant names:

• chr4-178730293-C-A
• rs436324

Your query was ambiguous. Multiple possible variants found:

• chr4-178730293-C-A
• chr4-178730293-C-G
• chr4-178730293-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 0.852 in 152,040 control chromosomes in the GnomAD database, including 55,610 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 0.85 (55610 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.794
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.903 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.852 AC: 129373 AN: 151922 Hom.: 55555 Cov.: 31

Gnomad AFR AF: 0.739

Gnomad AMI AF: 0.946

Gnomad AMR AF: 0.913

Gnomad ASJ AF: 0.864

Gnomad EAS AF: 0.797

Gnomad SAS AF: 0.860

Gnomad FIN AF: 0.840

Gnomad MID AF: 0.842

Gnomad NFE AF: 0.909

Gnomad OTH AF: 0.855

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

GnomAD4 genome AF: 0.852 AC: 129491 AN: 152040 Hom.: 55610 Cov.: 31 AF XY: 0.849 AC XY: 63071 AN XY: 74310

African (AFR) AF: 0.739 AC: 30643 AN: 41438

American (AMR) AF: 0.913 AC: 13934 AN: 15262

Ashkenazi Jewish (ASJ) AF: 0.864 AC: 3000 AN: 3472

East Asian (EAS) AF: 0.798 AC: 4094 AN: 5132

South Asian (SAS) AF: 0.861 AC: 4154 AN: 4824

European-Finnish (FIN) AF: 0.840 AC: 8897 AN: 10592

Middle Eastern (MID) AF: 0.854 AC: 251 AN: 294

European-Non Finnish (NFE) AF: 0.909 AC: 61840 AN: 67998

Other (OTH) AF: 0.858 AC: 1815 AN: 2116

Alfa AF: 0.895 Hom.: 35584

Bravo AF: 0.853

Asia WGS AF: 0.811 AC: 2822 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	12
DANN	Benign	0.71
PhyloP100		0.79

Splicing

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

Other links and lift over

dbSNP: rs436324; hg19: chr4-179651447;