14-41266738-C-T

Variant names:

• chr14-41266738-C-T
• rs1612945

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 0.764 in 152,066 control chromosomes in the GnomAD database, including 44,675 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 0.76 (44675 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.48
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.829 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: 0.764 AC: 116105 AN: 151948 Hom.: 44608 Cov.: 32

Gnomad AFR AF: 0.836

Gnomad AMI AF: 0.729

Gnomad AMR AF: 0.787

Gnomad ASJ AF: 0.782

Gnomad EAS AF: 0.798

Gnomad SAS AF: 0.660

Gnomad FIN AF: 0.686

Gnomad MID AF: 0.759

Gnomad NFE AF: 0.731

Gnomad OTH AF: 0.777

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

GnomAD4 genome AF: 0.764 AC: 116231 AN: 152066 Hom.: 44675 Cov.: 32 AF XY: 0.764 AC XY: 56770 AN XY: 74294

African (AFR) AF: 0.837 AC: 34715 AN: 41494

American (AMR) AF: 0.787 AC: 12012 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.782 AC: 2711 AN: 3468

East Asian (EAS) AF: 0.798 AC: 4128 AN: 5170

South Asian (SAS) AF: 0.660 AC: 3182 AN: 4824

European-Finnish (FIN) AF: 0.686 AC: 7233 AN: 10550

Middle Eastern (MID) AF: 0.759 AC: 223 AN: 294

European-Non Finnish (NFE) AF: 0.731 AC: 49715 AN: 67984

Other (OTH) AF: 0.781 AC: 1647 AN: 2110

Alfa AF: 0.763 Hom.: 5744

Bravo AF: 0.776

Asia WGS AF: 0.749 AC: 2607 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.6
DANN	Benign	0.49
PhyloP100		-1.5

Splicing

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

Other links and lift over

dbSNP: rs1612945; hg19: chr14-41735941;