rs7081330

Variant names:

• chr10-99514708-A-G
• rs7081330
• ENST00000806328.1:n.*133A>G

Your query was ambiguous. Multiple possible variants found:

• chr10-99514708-A-G
• chr10-99514708-A-T

Variant summary

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

The ENST00000806328.1(ENSG00000304797):​n.*133A>G variant causes a downstream gene change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.379 in 151,904 control chromosomes in the GnomAD database, including 11,310 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 0.38 (11310 hom., cov: 32)
• Consequence: ENSG00000304797 ENST00000806328.1 downstream_gene
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.197
• Publications: 5 publications found

Genes affected

ENSG00000304797 (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 (EAS) allele frequency at 95% confidence interval = 0.517 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
ENSG00000304797	ENST00000806328.1	n.*133A>G		downstream_gene_variant

Frequencies

GnomAD3 genomes AF: 0.379 AC: 57466 AN: 151786 Hom.: 11288 Cov.: 32

Gnomad AFR AF: 0.301

Gnomad AMI AF: 0.289

Gnomad AMR AF: 0.452

Gnomad ASJ AF: 0.302

Gnomad EAS AF: 0.534

Gnomad SAS AF: 0.380

Gnomad FIN AF: 0.457

Gnomad MID AF: 0.304

Gnomad NFE AF: 0.391

Gnomad OTH AF: 0.363

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

GnomAD4 genome AF: 0.379 AC: 57532 AN: 151904 Hom.: 11310 Cov.: 32 AF XY: 0.386 AC XY: 28662 AN XY: 74240

African (AFR) AF: 0.302 AC: 12496 AN: 41394

American (AMR) AF: 0.453 AC: 6920 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.302 AC: 1045 AN: 3464

East Asian (EAS) AF: 0.534 AC: 2750 AN: 5152

South Asian (SAS) AF: 0.380 AC: 1827 AN: 4808

European-Finnish (FIN) AF: 0.457 AC: 4811 AN: 10538

Middle Eastern (MID) AF: 0.293 AC: 86 AN: 294

European-Non Finnish (NFE) AF: 0.391 AC: 26571 AN: 67964

Other (OTH) AF: 0.362 AC: 763 AN: 2110

Alfa AF: 0.388 Hom.: 3103

Bravo AF: 0.377

Asia WGS AF: 0.435 AC: 1511 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	9.7
DANN	Benign	0.82
PhyloP100		0.20

Splicing

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

Other links and lift over

dbSNP: rs7081330; hg19: chr10-101274465;