14-98027742-A-G

Variant names:

• chr14-98027742-A-G
• rs8019853

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 0.915 in 152,070 control chromosomes in the GnomAD database, including 64,024 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 0.92 (64024 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.226
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.956 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: 0.916 AC: 139122 AN: 151952 Hom.: 63989 Cov.: 30

Gnomad AFR AF: 0.822

Gnomad AMI AF: 0.985

Gnomad AMR AF: 0.944

Gnomad ASJ AF: 0.965

Gnomad EAS AF: 0.912

Gnomad SAS AF: 0.874

Gnomad FIN AF: 0.935

Gnomad MID AF: 0.943

Gnomad NFE AF: 0.962

Gnomad OTH AF: 0.920

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

GnomAD4 genome AF: 0.915 AC: 139214 AN: 152070 Hom.: 64024 Cov.: 30 AF XY: 0.914 AC XY: 67943 AN XY: 74318

African (AFR) AF: 0.822 AC: 34091 AN: 41460

American (AMR) AF: 0.944 AC: 14436 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.965 AC: 3349 AN: 3470

East Asian (EAS) AF: 0.912 AC: 4658 AN: 5108

South Asian (SAS) AF: 0.875 AC: 4211 AN: 4814

European-Finnish (FIN) AF: 0.935 AC: 9913 AN: 10604

Middle Eastern (MID) AF: 0.939 AC: 276 AN: 294

European-Non Finnish (NFE) AF: 0.962 AC: 65445 AN: 68016

Other (OTH) AF: 0.920 AC: 1937 AN: 2106

Alfa AF: 0.949 Hom.: 263472

Bravo AF: 0.916

Asia WGS AF: 0.896 AC: 3117 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	3.6
DANN	Benign	0.51
PhyloP100		-0.23

Splicing

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

Other links and lift over

dbSNP: rs8019853; hg19: chr14-98494079;