rs1782182

Variant names:

• chr14-41227938-G-A
• rs1782182

Your query was ambiguous. Multiple possible variants found:

• chr14-41227938-G-A
• chr14-41227938-G-C

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 0.754 in 151,484 control chromosomes in the GnomAD database, including 43,283 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 0.75 (43283 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00700
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.79).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.809 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: 0.754 AC: 114129 AN: 151370 Hom.: 43226 Cov.: 30

Gnomad AFR AF: 0.816

Gnomad AMI AF: 0.729

Gnomad AMR AF: 0.786

Gnomad ASJ AF: 0.783

Gnomad EAS AF: 0.707

Gnomad SAS AF: 0.654

Gnomad FIN AF: 0.682

Gnomad MID AF: 0.756

Gnomad NFE AF: 0.729

Gnomad OTH AF: 0.772

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

GnomAD4 genome AF: 0.754 AC: 114248 AN: 151484 Hom.: 43283 Cov.: 30 AF XY: 0.753 AC XY: 55736 AN XY: 74008

African (AFR) AF: 0.816 AC: 33763 AN: 41356

American (AMR) AF: 0.787 AC: 11973 AN: 15218

Ashkenazi Jewish (ASJ) AF: 0.783 AC: 2717 AN: 3470

East Asian (EAS) AF: 0.707 AC: 3629 AN: 5130

South Asian (SAS) AF: 0.653 AC: 3135 AN: 4798

European-Finnish (FIN) AF: 0.682 AC: 7050 AN: 10336

Middle Eastern (MID) AF: 0.755 AC: 222 AN: 294

European-Non Finnish (NFE) AF: 0.729 AC: 49464 AN: 67870

Other (OTH) AF: 0.776 AC: 1630 AN: 2100

Alfa AF: 0.752 Hom.: 4299

Bravo AF: 0.764

Asia WGS AF: 0.706 AC: 2449 AN: 3466

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.79
CADD	Benign	1.2
DANN	Benign	0.66
PhyloP100		0.0070

Splicing

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

Other links and lift over

dbSNP: rs1782182; hg19: chr14-41697141;