17-36031260-C-T

Variant names:

• chr17-36031260-C-T
• rs712046

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 0.548 in 152,078 control chromosomes in the GnomAD database, including 23,321 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 0.55 (23321 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.142

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.811 is higher than 0.05.

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: 0.548 AC: 83303 AN: 151960 Hom.: 23290 Cov.: 32

Gnomad AFR AF: 0.536

Gnomad AMI AF: 0.566

Gnomad AMR AF: 0.599

Gnomad ASJ AF: 0.630

Gnomad EAS AF: 0.832

Gnomad SAS AF: 0.615

Gnomad FIN AF: 0.517

Gnomad MID AF: 0.570

Gnomad NFE AF: 0.518

Gnomad OTH AF: 0.552

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

GnomAD4 genome AF: 0.548 AC: 83379 AN: 152078 Hom.: 23321 Cov.: 32 AF XY: 0.553 AC XY: 41127 AN XY: 74332

Gnomad4 AFR AF: 0.536

Gnomad4 AMR AF: 0.598

Gnomad4 ASJ AF: 0.630

Gnomad4 EAS AF: 0.832

Gnomad4 SAS AF: 0.615

Gnomad4 FIN AF: 0.517

Gnomad4 NFE AF: 0.518

Gnomad4 OTH AF: 0.555

Alfa AF: 0.469 Hom.: 2238

Bravo AF: 0.554

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	11

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs712046; hg19: chr17-34358297;