rs344214

Variant names:

• chr8-62024600-G-A
• rs344214

Your query was ambiguous. Multiple possible variants found:

• chr8-62024600-G-A
• chr8-62024600-G-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 0.704 in 152,104 control chromosomes in the GnomAD database, including 39,196 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 0.70 (39196 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.08

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.904 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: 0.704 AC: 107053 AN: 151984 Hom.: 39151 Cov.: 32

Gnomad AFR AF: 0.912

Gnomad AMI AF: 0.720

Gnomad AMR AF: 0.590

Gnomad ASJ AF: 0.541

Gnomad EAS AF: 0.746

Gnomad SAS AF: 0.688

Gnomad FIN AF: 0.590

Gnomad MID AF: 0.608

Gnomad NFE AF: 0.628

Gnomad OTH AF: 0.688

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

GnomAD4 genome AF: 0.704 AC: 107150 AN: 152104 Hom.: 39196 Cov.: 32 AF XY: 0.700 AC XY: 52015 AN XY: 74336

Gnomad4 AFR AF: 0.912

Gnomad4 AMR AF: 0.589

Gnomad4 ASJ AF: 0.541

Gnomad4 EAS AF: 0.746

Gnomad4 SAS AF: 0.687

Gnomad4 FIN AF: 0.590

Gnomad4 NFE AF: 0.628

Gnomad4 OTH AF: 0.694

Alfa AF: 0.654 Hom.: 3933

Bravo AF: 0.714

Asia WGS AF: 0.734 AC: 2557 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	7.5
DANN	Benign	0.58

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs344214; hg19: chr8-62937159;