rs17711722

Variant names:

• chr7-65806210-C-T
• rs17711722

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 0.40 (6361 hom., cov: 40)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.607
• Publications: 24 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).

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: 0.396 AC: 58823 AN: 148432 Hom.: 6357 Cov.: 40

Gnomad AFR AF: 0.422

Gnomad AMI AF: 0.356

Gnomad AMR AF: 0.403

Gnomad ASJ AF: 0.360

Gnomad EAS AF: 0.163

Gnomad SAS AF: 0.308

Gnomad FIN AF: 0.350

Gnomad MID AF: 0.309

Gnomad NFE AF: 0.414

Gnomad OTH AF: 0.399

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: 0.396 AC: 58870 AN: 148540 Hom.: 6361 Cov.: 40 AF XY: 0.393 AC XY: 28497 AN XY: 72554

African (AFR) AF: 0.422 AC: 16490 AN: 39076

American (AMR) AF: 0.403 AC: 6047 AN: 15014

Ashkenazi Jewish (ASJ) AF: 0.360 AC: 1238 AN: 3442

East Asian (EAS) AF: 0.162 AC: 817 AN: 5046

South Asian (SAS) AF: 0.309 AC: 1455 AN: 4714

European-Finnish (FIN) AF: 0.350 AC: 3654 AN: 10446

Middle Eastern (MID) AF: 0.308 AC: 90 AN: 292

European-Non Finnish (NFE) AF: 0.414 AC: 27938 AN: 67538

Other (OTH) AF: 0.396 AC: 819 AN: 2068

Alfa AF: 0.497 Hom.: 7772

Asia WGS AF: 0.297 AC: 1032 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.9
DANN	Benign	0.60
PhyloP100		-0.61

Splicing

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

Other links and lift over

dbSNP: rs17711722; hg19: chr7-65271197;