rs8081523

Variant names:

• chr17-78308429-C-G
• rs8081523
• ENST00000812897.1:n.433+2233C>G

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000812897.1(ENSG00000305778):​n.433+2233C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.28 in 150,244 control chromosomes in the GnomAD database, including 6,360 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 0.28 (6360 hom., cov: 29)
• Consequence: ENSG00000305778 ENST00000812897.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.466
• Publications: 3 publications found

Genes affected

ENSG00000305778 (HGNC:):

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.345 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
ENSG00000305778	ENST00000812897.1	n.433+2233C>G		intron_variant	Intron 2 of 2

Frequencies

GnomAD3 genomes AF: 0.280 AC: 42069 AN: 150160 Hom.: 6355 Cov.: 29

Gnomad AFR AF: 0.202

Gnomad AMI AF: 0.337

Gnomad AMR AF: 0.218

Gnomad ASJ AF: 0.226

Gnomad EAS AF: 0.160

Gnomad SAS AF: 0.168

Gnomad FIN AF: 0.355

Gnomad MID AF: 0.208

Gnomad NFE AF: 0.349

Gnomad OTH AF: 0.284

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

GnomAD4 genome AF: 0.280 AC: 42095 AN: 150244 Hom.: 6360 Cov.: 29 AF XY: 0.277 AC XY: 20259 AN XY: 73204

African (AFR) AF: 0.202 AC: 8266 AN: 40860

American (AMR) AF: 0.217 AC: 3281 AN: 15086

Ashkenazi Jewish (ASJ) AF: 0.226 AC: 777 AN: 3444

East Asian (EAS) AF: 0.160 AC: 811 AN: 5062

South Asian (SAS) AF: 0.171 AC: 813 AN: 4750

European-Finnish (FIN) AF: 0.355 AC: 3575 AN: 10080

Middle Eastern (MID) AF: 0.208 AC: 60 AN: 288

European-Non Finnish (NFE) AF: 0.349 AC: 23619 AN: 67688

Other (OTH) AF: 0.283 AC: 588 AN: 2080

Alfa AF: 0.307 Hom.: 924

Bravo AF: 0.266

Asia WGS AF: 0.160 AC: 557 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.1
DANN	Benign	0.30
PhyloP100		-0.47

Splicing

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

Other links and lift over

dbSNP: rs8081523; hg19: chr17-76304510;