rs7078615

Variant names:

• chr10-124103696-A-C
• rs7078615

Your query was ambiguous. Multiple possible variants found:

• chr10-124103696-A-C
• chr10-124103696-A-G
• chr10-124103696-A-T

Variant summary

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

The variant allele was found at a frequency of 0.704 in 152,154 control chromosomes in the GnomAD database, including 37,924 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 0.70 (37924 hom., cov: 34)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.149
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.747 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: 0.705 AC: 107115 AN: 152036 Hom.: 37905 Cov.: 34

Gnomad AFR AF: 0.670

Gnomad AMI AF: 0.638

Gnomad AMR AF: 0.693

Gnomad ASJ AF: 0.584

Gnomad EAS AF: 0.676

Gnomad SAS AF: 0.769

Gnomad FIN AF: 0.698

Gnomad MID AF: 0.718

Gnomad NFE AF: 0.733

Gnomad OTH AF: 0.721

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

GnomAD4 genome AF: 0.704 AC: 107183 AN: 152154 Hom.: 37924 Cov.: 34 AF XY: 0.704 AC XY: 52352 AN XY: 74390

African (AFR) AF: 0.669 AC: 27766 AN: 41480

American (AMR) AF: 0.693 AC: 10599 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.584 AC: 2025 AN: 3468

East Asian (EAS) AF: 0.676 AC: 3504 AN: 5184

South Asian (SAS) AF: 0.768 AC: 3705 AN: 4826

European-Finnish (FIN) AF: 0.698 AC: 7386 AN: 10588

Middle Eastern (MID) AF: 0.724 AC: 213 AN: 294

European-Non Finnish (NFE) AF: 0.733 AC: 49877 AN: 68004

Other (OTH) AF: 0.724 AC: 1529 AN: 2112

Alfa AF: 0.716 Hom.: 55038

Bravo AF: 0.699

Asia WGS AF: 0.717 AC: 2490 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	1.4
DANN	Benign	0.65
PhyloP100		0.15

Splicing

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

Other links and lift over

dbSNP: rs7078615; hg19: chr10-125863212;