rs8011773

chr14-97391395-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 0.23 in 152,084 control chromosomes in the GnomAD database, including 4,111 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 0.23 (4111 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.34

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.298 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: 0.230 AC: 34977 AN: 151964 Hom.: 4113 Cov.: 32

Gnomad AFR AF: 0.215

Gnomad AMI AF: 0.287

Gnomad AMR AF: 0.248

Gnomad ASJ AF: 0.332

Gnomad EAS AF: 0.225

Gnomad SAS AF: 0.310

Gnomad FIN AF: 0.170

Gnomad MID AF: 0.342

Gnomad NFE AF: 0.232

Gnomad OTH AF: 0.274

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

GnomAD4 genome AF: 0.230 AC: 35004 AN: 152084 Hom.: 4111 Cov.: 32 AF XY: 0.229 AC XY: 17054 AN XY: 74344

Gnomad4 AFR AF: 0.215

Gnomad4 AMR AF: 0.248

Gnomad4 ASJ AF: 0.332

Gnomad4 EAS AF: 0.225

Gnomad4 SAS AF: 0.311

Gnomad4 FIN AF: 0.170

Gnomad4 NFE AF: 0.232

Gnomad4 OTH AF: 0.271

Alfa AF: 0.240 Hom.: 7549

Bravo AF: 0.235

Asia WGS AF: 0.249 AC: 862 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
Cadd	Benign	0.057
Dann	Benign	0.37

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8011773; hg19: chr14-97857732;