rs7075697

Variant names:

• chr10-46048451-C-G
• rs7075697

Your query was ambiguous. Multiple possible variants found:

• chr10-46048451-C-G
• chr10-46048451-C-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 0.376 in 151,668 control chromosomes in the GnomAD database, including 11,181 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 (11181 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.984
• Publications: 16 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 = 0.503 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: 0.376 AC: 57013 AN: 151550 Hom.: 11172 Cov.: 30

Gnomad AFR AF: 0.271

Gnomad AMI AF: 0.504

Gnomad AMR AF: 0.377

Gnomad ASJ AF: 0.466

Gnomad EAS AF: 0.455

Gnomad SAS AF: 0.519

Gnomad FIN AF: 0.344

Gnomad MID AF: 0.551

Gnomad NFE AF: 0.421

Gnomad OTH AF: 0.400

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

GnomAD4 genome AF: 0.376 AC: 57048 AN: 151668 Hom.: 11181 Cov.: 30 AF XY: 0.378 AC XY: 28043 AN XY: 74126

African (AFR) AF: 0.271 AC: 11209 AN: 41404

American (AMR) AF: 0.377 AC: 5740 AN: 15230

Ashkenazi Jewish (ASJ) AF: 0.466 AC: 1608 AN: 3452

East Asian (EAS) AF: 0.455 AC: 2329 AN: 5116

South Asian (SAS) AF: 0.520 AC: 2501 AN: 4806

European-Finnish (FIN) AF: 0.344 AC: 3624 AN: 10530

Middle Eastern (MID) AF: 0.537 AC: 158 AN: 294

European-Non Finnish (NFE) AF: 0.421 AC: 28568 AN: 67822

Other (OTH) AF: 0.405 AC: 852 AN: 2104

Alfa AF: 0.374 Hom.: 1321

Bravo AF: 0.367

Asia WGS AF: 0.486 AC: 1689 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	1.1
DANN	Benign	0.58
PhyloP100		-0.98
PromoterAI		0.0054	Neutral

Splicing

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

Other links and lift over

dbSNP: rs7075697; hg19: chr10-51547371;