rs1635216

chrX-3302678-G-AchrX-3302678-G-CchrX-3302678-G-T

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_Strong BS2

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 0.62 (15282 hom., 20609 hem., cov: 24)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.634

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BS2: High Homozygotes in GnomAd at 15295 gene

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.623 AC: 69075 AN: 110874 Hom.: 15295 Cov.: 24 AF XY: 0.622 AC XY: 20590 AN XY: 33124

Gnomad AFR AF: 0.528

Gnomad AMI AF: 0.712

Gnomad AMR AF: 0.636

Gnomad ASJ AF: 0.668

Gnomad EAS AF: 0.734

Gnomad SAS AF: 0.653

Gnomad FIN AF: 0.688

Gnomad MID AF: 0.660

Gnomad NFE AF: 0.655

Gnomad OTH AF: 0.637

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: 0.623 AC: 69071 AN: 110928 Hom.: 15282 Cov.: 24 AF XY: 0.621 AC XY: 20609 AN XY: 33188

Gnomad4 AFR AF: 0.527

Gnomad4 AMR AF: 0.636

Gnomad4 ASJ AF: 0.668

Gnomad4 EAS AF: 0.733

Gnomad4 SAS AF: 0.651

Gnomad4 FIN AF: 0.688

Gnomad4 NFE AF: 0.655

Gnomad4 OTH AF: 0.629

Alfa AF: 0.644 Hom.: 6109

Bravo AF: 0.616

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
Cadd	Benign	0.31
Dann	Benign	0.32

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1635216; hg19: chrX-3220719;