rs7014900

Variant names:

• chr8-114566078-T-G
• rs7014900

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.28 in 151,894 control chromosomes in the GnomAD database, including 6,751 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 0.28 (6751 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.113
• Publications: 3 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.421 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: 0.279 AC: 42386 AN: 151778 Hom.: 6733 Cov.: 32

Gnomad AFR AF: 0.426

Gnomad AMI AF: 0.145

Gnomad AMR AF: 0.261

Gnomad ASJ AF: 0.210

Gnomad EAS AF: 0.384

Gnomad SAS AF: 0.300

Gnomad FIN AF: 0.190

Gnomad MID AF: 0.320

Gnomad NFE AF: 0.204

Gnomad OTH AF: 0.265

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

GnomAD4 genome AF: 0.280 AC: 42457 AN: 151894 Hom.: 6751 Cov.: 32 AF XY: 0.279 AC XY: 20735 AN XY: 74246

African (AFR) AF: 0.426 AC: 17664 AN: 41460

American (AMR) AF: 0.262 AC: 3992 AN: 15248

Ashkenazi Jewish (ASJ) AF: 0.210 AC: 728 AN: 3466

East Asian (EAS) AF: 0.384 AC: 1971 AN: 5136

South Asian (SAS) AF: 0.301 AC: 1455 AN: 4830

European-Finnish (FIN) AF: 0.190 AC: 2011 AN: 10570

Middle Eastern (MID) AF: 0.310 AC: 91 AN: 294

European-Non Finnish (NFE) AF: 0.204 AC: 13853 AN: 67868

Other (OTH) AF: 0.265 AC: 560 AN: 2110

Alfa AF: 0.233 Hom.: 14509

Bravo AF: 0.295

Asia WGS AF: 0.317 AC: 1101 AN: 3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	2.2
DANN	Benign	0.48
PhyloP100		-0.11

Splicing

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

Other links and lift over

dbSNP: rs7014900; hg19: chr8-115578307;