rs4845211

Variant names:

• chr1-190017615-C-A
• rs4845211

Your query was ambiguous. Multiple possible variants found:

• chr1-190017615-C-A
• chr1-190017615-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 0.718 in 151,766 control chromosomes in the GnomAD database, including 40,255 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 0.72 (40255 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0480
• Publications: 0 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 (AFR) allele frequency at 95% confidence interval = 0.901 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: 0.718 AC: 108812 AN: 151648 Hom.: 40177 Cov.: 32

Gnomad AFR AF: 0.909

Gnomad AMI AF: 0.745

Gnomad AMR AF: 0.655

Gnomad ASJ AF: 0.661

Gnomad EAS AF: 0.502

Gnomad SAS AF: 0.669

Gnomad FIN AF: 0.711

Gnomad MID AF: 0.608

Gnomad NFE AF: 0.639

Gnomad OTH AF: 0.688

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

GnomAD4 genome AF: 0.718 AC: 108956 AN: 151766 Hom.: 40255 Cov.: 32 AF XY: 0.717 AC XY: 53144 AN XY: 74154

African (AFR) AF: 0.909 AC: 37738 AN: 41508

American (AMR) AF: 0.656 AC: 9995 AN: 15240

Ashkenazi Jewish (ASJ) AF: 0.661 AC: 2292 AN: 3468

East Asian (EAS) AF: 0.502 AC: 2585 AN: 5154

South Asian (SAS) AF: 0.669 AC: 3222 AN: 4818

European-Finnish (FIN) AF: 0.711 AC: 7480 AN: 10514

Middle Eastern (MID) AF: 0.610 AC: 178 AN: 292

European-Non Finnish (NFE) AF: 0.639 AC: 43329 AN: 67758

Other (OTH) AF: 0.693 AC: 1459 AN: 2104

Alfa AF: 0.601 Hom.: 2704

Bravo AF: 0.720

Asia WGS AF: 0.633 AC: 2199 AN: 3470

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.52
DANN	Benign	0.41
PhyloP100		-0.048

Splicing

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

Other links and lift over

dbSNP: rs4845211; hg19: chr1-189986745;