8-72194681-A-G

Variant names:

• chr8-72194681-A-G
• rs1963982
• ENST00000803291.1:n.275-32218A>G

Variant summary

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

The ENST00000803291.1(ENSG00000304428):​n.275-32218A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.416 in 152,020 control chromosomes in the GnomAD database, including 13,377 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 (13377 hom., cov: 32)
• Consequence: ENSG00000304428 ENST00000803291.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.877
• Publications: 18 publications found

Genes affected

ENSG00000304428 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.443 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000803291.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000304428	ENST00000803291.1		n.275-32218A>G		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.416 AC: 63189 AN: 151898 Hom.: 13366 Cov.: 32

Gnomad AFR AF: 0.339

Gnomad AMI AF: 0.366

Gnomad AMR AF: 0.418

Gnomad ASJ AF: 0.479

Gnomad EAS AF: 0.398

Gnomad SAS AF: 0.446

Gnomad FIN AF: 0.494

Gnomad MID AF: 0.465

Gnomad NFE AF: 0.447

Gnomad OTH AF: 0.413

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

GnomAD4 genome AF: 0.416 AC: 63241 AN: 152020 Hom.: 13377 Cov.: 32 AF XY: 0.417 AC XY: 30999 AN XY: 74322

African (AFR) AF: 0.339 AC: 14049 AN: 41472

American (AMR) AF: 0.418 AC: 6379 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.479 AC: 1661 AN: 3466

East Asian (EAS) AF: 0.398 AC: 2056 AN: 5166

South Asian (SAS) AF: 0.447 AC: 2152 AN: 4816

European-Finnish (FIN) AF: 0.494 AC: 5212 AN: 10560

Middle Eastern (MID) AF: 0.483 AC: 141 AN: 292

European-Non Finnish (NFE) AF: 0.447 AC: 30387 AN: 67956

Other (OTH) AF: 0.413 AC: 873 AN: 2116

Alfa AF: 0.432 Hom.: 42563

Bravo AF: 0.405

Asia WGS AF: 0.410 AC: 1420 AN: 3466

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	4.7
DANN	Benign	0.84
PhyloP100		-0.88

Splicing

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

Other links and lift over

dbSNP: rs1963982; hg19: chr8-73106916;