rs8080616

chr17-5739998-C-Achr17-5739998-C-Gchr17-5739998-C-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 0.0021 (8 hom., cov: 27)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.03

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BS2: High Homozygotes in GnomAd at 8 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: 0.00215 AC: 310 AN: 144374 Hom.: 8 Cov.: 27

Gnomad AFR AF: 0.000491

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.000615

Gnomad ASJ AF: 0.00674

Gnomad EAS AF: 0.000843

Gnomad SAS AF: 0.0296

Gnomad FIN AF: 0.000914

Gnomad MID AF: 0.0166

Gnomad NFE AF: 0.00154

Gnomad OTH AF: 0.00297

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: AS_VQSR AF: 0.00213 AC: 308 AN: 144446 Hom.: 8 Cov.: 27 AF XY: 0.00259 AC XY: 181 AN XY: 69952

Gnomad4 AFR AF: 0.000490

Gnomad4 AMR AF: 0.000615

Gnomad4 ASJ AF: 0.00674

Gnomad4 EAS AF: 0.000846

Gnomad4 SAS AF: 0.0294

Gnomad4 FIN AF: 0.000914

Gnomad4 NFE AF: 0.00152

Gnomad4 OTH AF: 0.00294

Alfa AF: 0.00335 Hom.: 634

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
Cadd	Benign	0.49
Dann	Benign	0.34

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8080616; hg19: chr17-5643318;