rs5968255

Variant names:

• chrX-83999684-T-C
• rs5968255

Your query was ambiguous. Multiple possible variants found:

• chrX-83999684-T-C
• chrX-83999684-T-G

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 0.127 in 111,247 control chromosomes in the GnomAD database, including 873 homozygotes. There are 4,257 hemizygotes in GnomAD. 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 0.13 (873 hom., 4257 hem., cov: 22)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0780

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.513 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: 0.127 AC: 14155 AN: 111188 Hom.: 872 Cov.: 22 AF XY: 0.127 AC XY: 4255 AN XY: 33416

Gnomad AFR AF: 0.0863

Gnomad AMI AF: 0.0966

Gnomad AMR AF: 0.136

Gnomad ASJ AF: 0.134

Gnomad EAS AF: 0.533

Gnomad SAS AF: 0.267

Gnomad FIN AF: 0.141

Gnomad MID AF: 0.0675

Gnomad NFE AF: 0.115

Gnomad OTH AF: 0.116

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

GnomAD4 genome AF: 0.127 AC: 14160 AN: 111247 Hom.: 873 Cov.: 22 AF XY: 0.127 AC XY: 4257 AN XY: 33485

Gnomad4 AFR AF: 0.0861

Gnomad4 AMR AF: 0.136

Gnomad4 ASJ AF: 0.134

Gnomad4 EAS AF: 0.534

Gnomad4 SAS AF: 0.266

Gnomad4 FIN AF: 0.141

Gnomad4 NFE AF: 0.115

Gnomad4 OTH AF: 0.116

Alfa AF: 0.129 Hom.: 9400

Bravo AF: 0.128

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.9
DANN	Benign	0.73

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs5968255; hg19: chrX-83254692;