17-78325428-C-T

Variant names:

• chr17-78325428-C-T
• rs12449451
• ENST00000586321.1:n.60+9640C>T

Variant summary

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

The ENST00000586321.1(ENSG00000267737):​n.60+9640C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.415 in 94,864 control chromosomes in the GnomAD database, including 5,552 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 0.42 (5552 hom., cov: 33)
• Consequence: ENSG00000267737 ENST00000586321.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.30

Genes affected

ENSG00000267737 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.444 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
LOC105371912	NR_188632.1	n.73+9640C>T		intron_variant	Intron 1 of 1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ENSG00000267737	ENST00000586321.1	n.60+9640C>T		intron_variant	Intron 1 of 2	3

Frequencies

GnomAD3 genomes AF: 0.415 AC: 39348 AN: 94818 Hom.: 5554 Cov.: 33

Gnomad AFR AF: 0.453

Gnomad AMI AF: 0.340

Gnomad AMR AF: 0.382

Gnomad ASJ AF: 0.240

Gnomad EAS AF: 0.382

Gnomad SAS AF: 0.302

Gnomad FIN AF: 0.455

Gnomad MID AF: 0.384

Gnomad NFE AF: 0.416

Gnomad OTH AF: 0.386

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

GnomAD4 genome AF: 0.415 AC: 39375 AN: 94864 Hom.: 5552 Cov.: 33 AF XY: 0.416 AC XY: 19189 AN XY: 46128

Gnomad4 AFR AF: 0.453

Gnomad4 AMR AF: 0.382

Gnomad4 ASJ AF: 0.240

Gnomad4 EAS AF: 0.384

Gnomad4 SAS AF: 0.303

Gnomad4 FIN AF: 0.455

Gnomad4 NFE AF: 0.416

Gnomad4 OTH AF: 0.386

Alfa AF: 0.206 Hom.: 581

Bravo AF: 0.245

Asia WGS AF: 0.130 AC: 435 AN: 3340

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	0.025
DANN	Benign	0.77

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs12449451; hg19: chr17-76321509;