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).

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: 0.396 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 v4.3

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;