chr14-97391395-C-T

Variant names:

• chr14-97391395-C-T
• rs8011773

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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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;