rs10484227

Variant names:

• chr14-20046864-G-A
• rs10484227

Your query was ambiguous. Multiple possible variants found:

• chr14-20046864-G-A
• chr14-20046864-G-C
• chr14-20046864-G-T

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 0.0864 in 152,164 control chromosomes in the GnomAD database, including 708 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 0.086 (708 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.313
• Publications: 5 publications found

ACMG classification

Our verdict: Benign. The variant received -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 = 0.163 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: 0.0866 AC: 13163 AN: 152046 Hom.: 712 Cov.: 31

Gnomad AFR AF: 0.0207

Gnomad AMI AF: 0.113

Gnomad AMR AF: 0.101

Gnomad ASJ AF: 0.149

Gnomad EAS AF: 0.172

Gnomad SAS AF: 0.0447

Gnomad FIN AF: 0.100

Gnomad MID AF: 0.117

Gnomad NFE AF: 0.114

Gnomad OTH AF: 0.105

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

GnomAD4 genome AF: 0.0864 AC: 13151 AN: 152164 Hom.: 708 Cov.: 31 AF XY: 0.0853 AC XY: 6344 AN XY: 74368

African (AFR) AF: 0.0206 AC: 857 AN: 41532

American (AMR) AF: 0.100 AC: 1531 AN: 15250

Ashkenazi Jewish (ASJ) AF: 0.149 AC: 519 AN: 3472

East Asian (EAS) AF: 0.172 AC: 890 AN: 5176

South Asian (SAS) AF: 0.0449 AC: 217 AN: 4830

European-Finnish (FIN) AF: 0.100 AC: 1062 AN: 10582

Middle Eastern (MID) AF: 0.109 AC: 32 AN: 294

European-Non Finnish (NFE) AF: 0.114 AC: 7722 AN: 68000

Other (OTH) AF: 0.103 AC: 218 AN: 2116

Alfa AF: 0.103 Hom.: 2873

Bravo AF: 0.0868

Asia WGS AF: 0.0890 AC: 312 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	11
DANN	Benign	0.69
PhyloP100		0.31

Splicing

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

Other links and lift over

dbSNP: rs10484227; hg19: chr14-20515023;