17-35807672-T-G

Position:

• chr17-35807672-T-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.0582 in 152,276 control chromosomes in the GnomAD database, including 438 homozygotes. 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 0.058 (438 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.545

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.13 is higher than 0.05.

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: 0.0581 AC: 8843 AN: 152158 Hom.: 436 Cov.: 32

Gnomad AFR AF: 0.133

Gnomad AMI AF: 0.0351

Gnomad AMR AF: 0.0261

Gnomad ASJ AF: 0.0141

Gnomad EAS AF: 0.112

Gnomad SAS AF: 0.0143

Gnomad FIN AF: 0.0360

Gnomad MID AF: 0.0158

Gnomad NFE AF: 0.0255

Gnomad OTH AF: 0.0425

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.0582 AC: 8860 AN: 152276 Hom.: 438 Cov.: 32 AF XY: 0.0574 AC XY: 4274 AN XY: 74456

Gnomad4 AFR AF: 0.133

Gnomad4 AMR AF: 0.0260

Gnomad4 ASJ AF: 0.0141

Gnomad4 EAS AF: 0.112

Gnomad4 SAS AF: 0.0141

Gnomad4 FIN AF: 0.0360

Gnomad4 NFE AF: 0.0255

Gnomad4 OTH AF: 0.0449

Alfa AF: 0.0429 Hom.: 26

Bravo AF: 0.0623

Asia WGS AF: 0.0520 AC: 182 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	11
DANN	Benign	0.68

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4251700; hg19: chr17-34134676;