rs6647911

Variant names:

• chrX-76067659-A-G
• rs6647911

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 0.91 (33186 hom., 29273 hem., cov: 22)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.08
• 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=-0.96).

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: 0.909 AC: 100321 AN: 110386 Hom.: 33192 Cov.: 22

Gnomad AFR AF: 0.907

Gnomad AMI AF: 1.00

Gnomad AMR AF: 0.807

Gnomad ASJ AF: 0.974

Gnomad EAS AF: 0.230

Gnomad SAS AF: 0.762

Gnomad FIN AF: 0.953

Gnomad MID AF: 0.987

Gnomad NFE AF: 0.972

Gnomad OTH AF: 0.911

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: 0.909 AC: 100373 AN: 110439 Hom.: 33186 Cov.: 22 AF XY: 0.897 AC XY: 29273 AN XY: 32619

African (AFR) AF: 0.907 AC: 27545 AN: 30377

American (AMR) AF: 0.807 AC: 8333 AN: 10324

Ashkenazi Jewish (ASJ) AF: 0.974 AC: 2566 AN: 2634

East Asian (EAS) AF: 0.230 AC: 801 AN: 3488

South Asian (SAS) AF: 0.763 AC: 1961 AN: 2569

European-Finnish (FIN) AF: 0.953 AC: 5483 AN: 5756

Middle Eastern (MID) AF: 0.991 AC: 214 AN: 216

European-Non Finnish (NFE) AF: 0.972 AC: 51425 AN: 52895

Other (OTH) AF: 0.910 AC: 1362 AN: 1497

Alfa AF: 0.941 Hom.: 88320

Bravo AF: 0.888

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	1.1
DANN	Benign	0.42
PhyloP100		-1.1

Splicing

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

Other links and lift over

dbSNP: rs6647911; hg19: chrX-75287494;