rs7072751

Variant names:

• chr10-97781347-A-G
• rs7072751

Your query was ambiguous. Multiple possible variants found:

• chr10-97781347-A-G
• chr10-97781347-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 0.823 in 152,116 control chromosomes in the GnomAD database, including 51,968 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 0.82 (51968 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.967
• Publications: 3 publications found

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 = 0.876 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: 0.823 AC: 125037 AN: 151998 Hom.: 51933 Cov.: 31

Gnomad AFR AF: 0.774

Gnomad AMI AF: 0.860

Gnomad AMR AF: 0.750

Gnomad ASJ AF: 0.829

Gnomad EAS AF: 0.522

Gnomad SAS AF: 0.783

Gnomad FIN AF: 0.894

Gnomad MID AF: 0.858

Gnomad NFE AF: 0.882

Gnomad OTH AF: 0.822

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

GnomAD4 genome AF: 0.823 AC: 125120 AN: 152116 Hom.: 51968 Cov.: 31 AF XY: 0.818 AC XY: 60810 AN XY: 74360

African (AFR) AF: 0.775 AC: 32123 AN: 41474

American (AMR) AF: 0.749 AC: 11447 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.829 AC: 2877 AN: 3472

East Asian (EAS) AF: 0.521 AC: 2686 AN: 5152

South Asian (SAS) AF: 0.783 AC: 3774 AN: 4820

European-Finnish (FIN) AF: 0.894 AC: 9481 AN: 10606

Middle Eastern (MID) AF: 0.861 AC: 253 AN: 294

European-Non Finnish (NFE) AF: 0.882 AC: 59959 AN: 67988

Other (OTH) AF: 0.822 AC: 1736 AN: 2112

Alfa AF: 0.855 Hom.: 44028

Bravo AF: 0.806

Asia WGS AF: 0.684 AC: 2374 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.46
DANN	Benign	0.21
PhyloP100		-0.97

Splicing

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

Other links and lift over

dbSNP: rs7072751; hg19: chr10-99541104;