rs6814223

Variant names:

• chr4-81020302-G-A
• rs6814223

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 0.106 in 152,200 control chromosomes in the GnomAD database, including 953 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 0.11 (953 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.318
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.77).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.115 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: 0.106 AC: 16087 AN: 152082 Hom.: 952 Cov.: 31

Gnomad AFR AF: 0.0812

Gnomad AMI AF: 0.174

Gnomad AMR AF: 0.0989

Gnomad ASJ AF: 0.288

Gnomad EAS AF: 0.0504

Gnomad SAS AF: 0.117

Gnomad FIN AF: 0.0872

Gnomad MID AF: 0.149

Gnomad NFE AF: 0.118

Gnomad OTH AF: 0.125

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

GnomAD4 genome AF: 0.106 AC: 16087 AN: 152200 Hom.: 953 Cov.: 31 AF XY: 0.104 AC XY: 7727 AN XY: 74416

African (AFR) AF: 0.0812 AC: 3370 AN: 41526

American (AMR) AF: 0.0987 AC: 1511 AN: 15302

Ashkenazi Jewish (ASJ) AF: 0.288 AC: 1000 AN: 3472

East Asian (EAS) AF: 0.0504 AC: 261 AN: 5182

South Asian (SAS) AF: 0.117 AC: 564 AN: 4822

European-Finnish (FIN) AF: 0.0872 AC: 924 AN: 10600

Middle Eastern (MID) AF: 0.150 AC: 44 AN: 294

European-Non Finnish (NFE) AF: 0.118 AC: 7995 AN: 67980

Other (OTH) AF: 0.123 AC: 259 AN: 2110

Alfa AF: 0.118 Hom.: 3691

Bravo AF: 0.107

Asia WGS AF: 0.0900 AC: 311 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.77
CADD	Benign	4.5
DANN	Benign	0.65
PhyloP100		0.32

Splicing

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

Other links and lift over

dbSNP: rs6814223; hg19: chr4-81941456;