rs9723770

Variant names:

• chrX-150277818-G-A
• rs9723770

Your query was ambiguous. Multiple possible variants found:

• chrX-150277818-G-A
• chrX-150277818-G-C

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 0.96 (35835 hom., 31179 hem., cov: 22)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0210
• 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=-0.89).

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: 0.959 AC: 105657 AN: 110194 Hom.: 35842 Cov.: 22

Gnomad AFR AF: 0.859

Gnomad AMI AF: 1.00

Gnomad AMR AF: 0.979

Gnomad ASJ AF: 1.00

Gnomad EAS AF: 1.00

Gnomad SAS AF: 1.00

Gnomad FIN AF: 1.00

Gnomad MID AF: 0.987

Gnomad NFE AF: 1.00

Gnomad OTH AF: 0.964

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: 0.959 AC: 105705 AN: 110251 Hom.: 35835 Cov.: 22 AF XY: 0.961 AC XY: 31179 AN XY: 32455

African (AFR) AF: 0.859 AC: 25985 AN: 30245

American (AMR) AF: 0.979 AC: 10132 AN: 10347

Ashkenazi Jewish (ASJ) AF: 1.00 AC: 2636 AN: 2636

East Asian (EAS) AF: 1.00 AC: 3514 AN: 3514

South Asian (SAS) AF: 1.00 AC: 2438 AN: 2439

European-Finnish (FIN) AF: 1.00 AC: 5871 AN: 5871

Middle Eastern (MID) AF: 0.986 AC: 214 AN: 217

European-Non Finnish (NFE) AF: 1.00 AC: 52778 AN: 52792

Other (OTH) AF: 0.965 AC: 1455 AN: 1508

Alfa AF: 0.969 Hom.: 6159

Bravo AF: 0.950

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.87
PhyloP100		0.021

Splicing

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

Other links and lift over

dbSNP: rs9723770; hg19: chrX-149446036;