14-101212918-G-A

Variant names:

• chr14-101212918-G-A
• rs6575836

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 0.799 in 152,188 control chromosomes in the GnomAD database, including 48,878 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 0.80 (48878 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.45
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.852 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: 0.799 AC: 121553 AN: 152070 Hom.: 48832 Cov.: 33

Gnomad AFR AF: 0.860

Gnomad AMI AF: 0.842

Gnomad AMR AF: 0.764

Gnomad ASJ AF: 0.804

Gnomad EAS AF: 0.565

Gnomad SAS AF: 0.777

Gnomad FIN AF: 0.748

Gnomad MID AF: 0.839

Gnomad NFE AF: 0.797

Gnomad OTH AF: 0.798

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

GnomAD4 genome AF: 0.799 AC: 121664 AN: 152188 Hom.: 48878 Cov.: 33 AF XY: 0.795 AC XY: 59134 AN XY: 74398

African (AFR) AF: 0.860 AC: 35713 AN: 41532

American (AMR) AF: 0.764 AC: 11679 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.804 AC: 2789 AN: 3470

East Asian (EAS) AF: 0.566 AC: 2925 AN: 5170

South Asian (SAS) AF: 0.776 AC: 3746 AN: 4830

European-Finnish (FIN) AF: 0.748 AC: 7916 AN: 10580

Middle Eastern (MID) AF: 0.837 AC: 246 AN: 294

European-Non Finnish (NFE) AF: 0.797 AC: 54190 AN: 68002

Other (OTH) AF: 0.801 AC: 1694 AN: 2114

Alfa AF: 0.796 Hom.: 199986

Bravo AF: 0.802

Asia WGS AF: 0.705 AC: 2452 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.91
DANN	Benign	0.46
PhyloP100		-1.4

Splicing

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

Other links and lift over

dbSNP: rs6575836; hg19: chr14-101679255;