rs7891451

Variant names:

• chrX-71201173-A-G
• rs7891451

Variant summary

Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BP4_Strong

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 0.60 (15354 hom., 18084 hem., cov: 20)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.20
• Publications: 0 publications found

ACMG classification

Our verdict: Likely_benign. The variant received -4 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.06).

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: 0.603 AC: 65106 AN: 108051 Hom.: 15344 Cov.: 20

Gnomad AFR AF: 0.825

Gnomad AMI AF: 0.661

Gnomad AMR AF: 0.633

Gnomad ASJ AF: 0.681

Gnomad EAS AF: 0.737

Gnomad SAS AF: 0.586

Gnomad FIN AF: 0.414

Gnomad MID AF: 0.674

Gnomad NFE AF: 0.476

Gnomad OTH AF: 0.636

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

GnomAD4 genome Data not reliable, filtered out with message: InbreedingCoeff AF: 0.603 AC: 65164 AN: 108098 Hom.: 15354 Cov.: 20 AF XY: 0.590 AC XY: 18084 AN XY: 30634

African (AFR) AF: 0.825 AC: 24649 AN: 29885

American (AMR) AF: 0.633 AC: 6378 AN: 10068

Ashkenazi Jewish (ASJ) AF: 0.681 AC: 1771 AN: 2600

East Asian (EAS) AF: 0.737 AC: 2402 AN: 3257

South Asian (SAS) AF: 0.586 AC: 1416 AN: 2418

European-Finnish (FIN) AF: 0.414 AC: 2282 AN: 5508

Middle Eastern (MID) AF: 0.689 AC: 146 AN: 212

European-Non Finnish (NFE) AF: 0.476 AC: 24732 AN: 52008

Other (OTH) AF: 0.642 AC: 959 AN: 1493

Alfa AF: 0.553 Hom.: 4184

Bravo AF: 0.633

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
CADD	Benign	1.9
DANN	Benign	0.17
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs7891451; hg19: chrX-70421023;