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).

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: 0.566 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 v4.3

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;