14-85276014-G-C

Variant names:

• chr14-85276014-G-C
• rs961166

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 0.593 in 151,714 control chromosomes in the GnomAD database, including 28,266 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 0.59 (28266 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.57

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.771 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: 0.593 AC: 89832 AN: 151596 Hom.: 28231 Cov.: 32

Gnomad AFR AF: 0.778

Gnomad AMI AF: 0.476

Gnomad AMR AF: 0.500

Gnomad ASJ AF: 0.554

Gnomad EAS AF: 0.0917

Gnomad SAS AF: 0.362

Gnomad FIN AF: 0.584

Gnomad MID AF: 0.611

Gnomad NFE AF: 0.561

Gnomad OTH AF: 0.555

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

GnomAD4 genome AF: 0.593 AC: 89921 AN: 151714 Hom.: 28266 Cov.: 32 AF XY: 0.585 AC XY: 43408 AN XY: 74150

Gnomad4 AFR AF: 0.778

Gnomad4 AMR AF: 0.499

Gnomad4 ASJ AF: 0.554

Gnomad4 EAS AF: 0.0920

Gnomad4 SAS AF: 0.364

Gnomad4 FIN AF: 0.584

Gnomad4 NFE AF: 0.561

Gnomad4 OTH AF: 0.549

Alfa AF: 0.498 Hom.: 1519

Bravo AF: 0.594

Asia WGS AF: 0.264 AC: 917 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.35
DANN	Benign	0.59

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs961166; hg19: chr14-85742358;