rs1268843

Variant names:

• chr14-93178034-A-C
• rs1268843

Your query was ambiguous. Multiple possible variants found:

• chr14-93178034-A-C
• chr14-93178034-A-G
• chr14-93178034-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 0.733 in 152,190 control chromosomes in the GnomAD database, including 41,066 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 0.73 (41066 hom., cov: 34)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.529
• Publications: 14 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.761 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: 0.733 AC: 111538 AN: 152072 Hom.: 41027 Cov.: 34

Gnomad AFR AF: 0.768

Gnomad AMI AF: 0.748

Gnomad AMR AF: 0.691

Gnomad ASJ AF: 0.657

Gnomad EAS AF: 0.723

Gnomad SAS AF: 0.782

Gnomad FIN AF: 0.700

Gnomad MID AF: 0.706

Gnomad NFE AF: 0.728

Gnomad OTH AF: 0.733

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

GnomAD4 genome AF: 0.733 AC: 111631 AN: 152190 Hom.: 41066 Cov.: 34 AF XY: 0.729 AC XY: 54262 AN XY: 74412

African (AFR) AF: 0.768 AC: 31904 AN: 41536

American (AMR) AF: 0.692 AC: 10578 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.657 AC: 2281 AN: 3470

East Asian (EAS) AF: 0.723 AC: 3743 AN: 5176

South Asian (SAS) AF: 0.781 AC: 3770 AN: 4826

European-Finnish (FIN) AF: 0.700 AC: 7412 AN: 10586

Middle Eastern (MID) AF: 0.701 AC: 206 AN: 294

European-Non Finnish (NFE) AF: 0.728 AC: 49503 AN: 67980

Other (OTH) AF: 0.734 AC: 1552 AN: 2114

Alfa AF: 0.729 Hom.: 113790

Bravo AF: 0.739

Asia WGS AF: 0.742 AC: 2582 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	2.9
DANN	Benign	0.61
PhyloP100		-0.53

Splicing

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

Other links and lift over

dbSNP: rs1268843; hg19: chr14-93644379;