8-142918184-A-G

Variant names:

• chr8-142918184-A-G
• rs1799998

Variant summary

Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_Strong BP6_Moderate BA1

The variant allele was found at a frequency of 0.387 in 151,942 control chromosomes in the GnomAD database, including 12,316 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).

• Frequency: Genomes: 𝑓 0.39 (12316 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: -0.134

ACMG classification

Verdict is Benign. Variant got -14 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.79).
• BP6: Variant 8-142918184-A-G is Benign according to our data. Variant chr8-142918184-A-G is described in ClinVar as [Benign]. Clinvar id is 759405.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.448 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: 0.387 AC: 58808 AN: 151824 Hom.: 12317 Cov.: 32

Gnomad AFR AF: 0.229

Gnomad AMI AF: 0.521

Gnomad AMR AF: 0.431

Gnomad ASJ AF: 0.542

Gnomad EAS AF: 0.302

Gnomad SAS AF: 0.419

Gnomad FIN AF: 0.485

Gnomad MID AF: 0.434

Gnomad NFE AF: 0.452

Gnomad OTH AF: 0.416

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

GnomAD4 genome AF: 0.387 AC: 58817 AN: 151942 Hom.: 12316 Cov.: 32 AF XY: 0.392 AC XY: 29148 AN XY: 74288

Gnomad4 AFR AF: 0.229

Gnomad4 AMR AF: 0.431

Gnomad4 ASJ AF: 0.542

Gnomad4 EAS AF: 0.301

Gnomad4 SAS AF: 0.421

Gnomad4 FIN AF: 0.485

Gnomad4 NFE AF: 0.452

Gnomad4 OTH AF: 0.413

Alfa AF: 0.427 Hom.: 14122

Bravo AF: 0.376

Asia WGS AF: 0.317 AC: 1104 AN: 3478

ClinVar

Significance: Benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

Submissions by phenotype

not provided Benign:1

Nov 15, 2024

Labcorp Genetics (formerly Invitae), Labcorp

Significance: Benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.79
CADD	Benign	8.5
DANN	Benign	0.89

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1799998; hg19: chr8-143999600;