chr14-68871717-C-T

Position:

• chr14-68871717-C-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.69 in 152,028 control chromosomes in the GnomAD database, including 36,371 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 0.69 (36371 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.285

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.756 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.690 AC: 104849 AN: 151910 Hom.: 36341 Cov.: 31

Gnomad AFR AF: 0.676

Gnomad AMI AF: 0.711

Gnomad AMR AF: 0.767

Gnomad ASJ AF: 0.725

Gnomad EAS AF: 0.503

Gnomad SAS AF: 0.751

Gnomad FIN AF: 0.666

Gnomad MID AF: 0.684

Gnomad NFE AF: 0.693

Gnomad OTH AF: 0.690

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

GnomAD4 genome AF: 0.690 AC: 104923 AN: 152028 Hom.: 36371 Cov.: 31 AF XY: 0.691 AC XY: 51345 AN XY: 74326

Gnomad4 AFR AF: 0.676

Gnomad4 AMR AF: 0.768

Gnomad4 ASJ AF: 0.725

Gnomad4 EAS AF: 0.503

Gnomad4 SAS AF: 0.751

Gnomad4 FIN AF: 0.666

Gnomad4 NFE AF: 0.693

Gnomad4 OTH AF: 0.694

Alfa AF: 0.685 Hom.: 4453

Bravo AF: 0.695

Asia WGS AF: 0.701 AC: 2434 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	2.8
DANN	Benign	0.67

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4312253; hg19: chr14-69338434;