rs1243168

Variant names:

• chr14-94375029-A-G
• rs1243168

Your query was ambiguous. Multiple possible variants found:

• chr14-94375029-A-G
• chr14-94375029-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 0.849 in 152,252 control chromosomes in the GnomAD database, including 55,329 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 (55329 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.270
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.949 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.849 AC: 129137 AN: 152134 Hom.: 55266 Cov.: 33

Gnomad AFR AF: 0.956

Gnomad AMI AF: 0.800

Gnomad AMR AF: 0.870

Gnomad ASJ AF: 0.825

Gnomad EAS AF: 0.944

Gnomad SAS AF: 0.894

Gnomad FIN AF: 0.791

Gnomad MID AF: 0.866

Gnomad NFE AF: 0.779

Gnomad OTH AF: 0.858

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

GnomAD4 genome AF: 0.849 AC: 129259 AN: 152252 Hom.: 55329 Cov.: 33 AF XY: 0.853 AC XY: 63495 AN XY: 74440

African (AFR) AF: 0.956 AC: 39751 AN: 41562

American (AMR) AF: 0.870 AC: 13311 AN: 15298

Ashkenazi Jewish (ASJ) AF: 0.825 AC: 2863 AN: 3470

East Asian (EAS) AF: 0.944 AC: 4883 AN: 5174

South Asian (SAS) AF: 0.894 AC: 4316 AN: 4828

European-Finnish (FIN) AF: 0.791 AC: 8383 AN: 10594

Middle Eastern (MID) AF: 0.866 AC: 253 AN: 292

European-Non Finnish (NFE) AF: 0.779 AC: 52955 AN: 68008

Other (OTH) AF: 0.858 AC: 1816 AN: 2116

Alfa AF: 0.798 Hom.: 85049

Bravo AF: 0.860

Asia WGS AF: 0.907 AC: 3152 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	2.6
DANN	Benign	0.58
PhyloP100		-0.27

Splicing

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

Other links and lift over

dbSNP: rs1243168; hg19: chr14-94841366;