rs6847349

Variant names:

• chr4-14039299-G-A
• rs6847349

Your query was ambiguous. Multiple possible variants found:

• chr4-14039299-G-A
• chr4-14039299-G-C
• chr4-14039299-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 0.522 in 135,010 control chromosomes in the GnomAD database, including 18,571 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 0.52 (18571 hom., cov: 22)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.271

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.805 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: 0.523 AC: 70515 AN: 134950 Hom.: 18561 Cov.: 22

Gnomad AFR AF: 0.326

Gnomad AMI AF: 0.388

Gnomad AMR AF: 0.687

Gnomad ASJ AF: 0.487

Gnomad EAS AF: 0.827

Gnomad SAS AF: 0.519

Gnomad FIN AF: 0.618

Gnomad MID AF: 0.593

Gnomad NFE AF: 0.555

Gnomad OTH AF: 0.528

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

GnomAD4 genome AF: 0.522 AC: 70539 AN: 135010 Hom.: 18571 Cov.: 22 AF XY: 0.528 AC XY: 34434 AN XY: 65178

Gnomad4 AFR AF: 0.326

Gnomad4 AMR AF: 0.688

Gnomad4 ASJ AF: 0.487

Gnomad4 EAS AF: 0.826

Gnomad4 SAS AF: 0.518

Gnomad4 FIN AF: 0.618

Gnomad4 NFE AF: 0.555

Gnomad4 OTH AF: 0.533

Alfa AF: 0.491 Hom.: 7860

Bravo AF: 0.482

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.76
DANN	Benign	0.59

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6847349; hg19: chr4-14040923; COSMIC: COSV69990087;