rs1151737

Variant names:

• chrX-123011389-G-T
• rs1151737

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 0.57 (13165 hom., 18100 hem., cov: 23)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.19
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.566 AC: 62644 AN: 110606 Hom.: 13157 Cov.: 23

Gnomad AFR AF: 0.569

Gnomad AMI AF: 0.603

Gnomad AMR AF: 0.438

Gnomad ASJ AF: 0.691

Gnomad EAS AF: 0.228

Gnomad SAS AF: 0.273

Gnomad FIN AF: 0.553

Gnomad MID AF: 0.570

Gnomad NFE AF: 0.622

Gnomad OTH AF: 0.578

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: 0.566 AC: 62677 AN: 110666 Hom.: 13165 Cov.: 23 AF XY: 0.550 AC XY: 18100 AN XY: 32916

African (AFR) AF: 0.569 AC: 17325 AN: 30433

American (AMR) AF: 0.438 AC: 4566 AN: 10423

Ashkenazi Jewish (ASJ) AF: 0.691 AC: 1817 AN: 2631

East Asian (EAS) AF: 0.228 AC: 804 AN: 3522

South Asian (SAS) AF: 0.273 AC: 724 AN: 2649

European-Finnish (FIN) AF: 0.553 AC: 3217 AN: 5821

Middle Eastern (MID) AF: 0.570 AC: 122 AN: 214

European-Non Finnish (NFE) AF: 0.622 AC: 32831 AN: 52804

Other (OTH) AF: 0.579 AC: 869 AN: 1502

Alfa AF: 0.600 Hom.: 4556

Bravo AF: 0.555

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.081
DANN	Benign	0.72
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs1151737; hg19: chrX-122145242;