rs7846200

chr8-119495032-G-Achr8-119495032-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 0.379 in 151,634 control chromosomes in the GnomAD database, including 11,663 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 0.38 (11663 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.35

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.566 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: 0.379 AC: 57424 AN: 151518 Hom.: 11660 Cov.: 31

Gnomad AFR AF: 0.239

Gnomad AMI AF: 0.570

Gnomad AMR AF: 0.433

Gnomad ASJ AF: 0.417

Gnomad EAS AF: 0.299

Gnomad SAS AF: 0.584

Gnomad FIN AF: 0.474

Gnomad MID AF: 0.339

Gnomad NFE AF: 0.424

Gnomad OTH AF: 0.382

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

GnomAD4 genome AF: 0.379 AC: 57442 AN: 151634 Hom.: 11663 Cov.: 31 AF XY: 0.385 AC XY: 28502 AN XY: 74036

Gnomad4 AFR AF: 0.239

Gnomad4 AMR AF: 0.432

Gnomad4 ASJ AF: 0.417

Gnomad4 EAS AF: 0.299

Gnomad4 SAS AF: 0.584

Gnomad4 FIN AF: 0.474

Gnomad4 NFE AF: 0.424

Gnomad4 OTH AF: 0.387

Alfa AF: 0.401 Hom.: 5737

Bravo AF: 0.363

Asia WGS AF: 0.480 AC: 1667 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
Cadd	Benign	0.56
Dann	Benign	0.39

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7846200; hg19: chr8-120507272;