rs766737

Positions:

• chr14-21768357-C-A
• chr14-21768357-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 0.88 in 634,464 control chromosomes in the GnomAD database, including 247,371 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 0.88 (59132 hom., cov: 31)
  • Exomes 𝑓: 0.88 (188239 hom.)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.335

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.915 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.880 AC: 133754 AN: 152020 Hom.: 59128 Cov.: 31

Gnomad AFR AF: 0.882

Gnomad AMI AF: 0.990

Gnomad AMR AF: 0.824

Gnomad ASJ AF: 0.935

Gnomad EAS AF: 0.684

Gnomad SAS AF: 0.822

Gnomad FIN AF: 0.779

Gnomad MID AF: 0.902

Gnomad NFE AF: 0.921

Gnomad OTH AF: 0.894

GnomAD4 exome AF: 0.880 AC: 424590 AN: 482326 Hom.: 188239 AF XY: 0.880 AC XY: 226136 AN XY: 256836

Gnomad4 AFR exome AF: 0.876

Gnomad4 AMR exome AF: 0.795

Gnomad4 ASJ exome AF: 0.941

Gnomad4 EAS exome AF: 0.691

Gnomad4 SAS exome AF: 0.845

Gnomad4 FIN exome AF: 0.785

Gnomad4 NFE exome AF: 0.923

Gnomad4 OTH exome AF: 0.882

GnomAD4 genome AF: 0.879 AC: 133804 AN: 152138 Hom.: 59132 Cov.: 31 AF XY: 0.870 AC XY: 64700 AN XY: 74368

Gnomad4 AFR AF: 0.882

Gnomad4 AMR AF: 0.823

Gnomad4 ASJ AF: 0.935

Gnomad4 EAS AF: 0.684

Gnomad4 SAS AF: 0.821

Gnomad4 FIN AF: 0.779

Gnomad4 NFE AF: 0.921

Gnomad4 OTH AF: 0.887

Alfa AF: 0.900 Hom.: 7646

Bravo AF: 0.883

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	1.1

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs766737; hg19: chr14-22236597;