rs7699512

Variant names:

• chr4-10124184-C-T
• rs7699512

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 0.444 in 152,056 control chromosomes in the GnomAD database, including 15,307 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 0.44 (15307 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.23
• Publications: 10 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.529 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: 0.444 AC: 67455 AN: 151938 Hom.: 15289 Cov.: 33

Gnomad AFR AF: 0.353

Gnomad AMI AF: 0.492

Gnomad AMR AF: 0.538

Gnomad ASJ AF: 0.475

Gnomad EAS AF: 0.499

Gnomad SAS AF: 0.403

Gnomad FIN AF: 0.470

Gnomad MID AF: 0.462

Gnomad NFE AF: 0.471

Gnomad OTH AF: 0.444

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

GnomAD4 genome AF: 0.444 AC: 67506 AN: 152056 Hom.: 15307 Cov.: 33 AF XY: 0.446 AC XY: 33165 AN XY: 74320

African (AFR) AF: 0.353 AC: 14619 AN: 41448

American (AMR) AF: 0.539 AC: 8230 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.475 AC: 1647 AN: 3470

East Asian (EAS) AF: 0.499 AC: 2583 AN: 5174

South Asian (SAS) AF: 0.403 AC: 1942 AN: 4822

European-Finnish (FIN) AF: 0.470 AC: 4969 AN: 10568

Middle Eastern (MID) AF: 0.469 AC: 137 AN: 292

European-Non Finnish (NFE) AF: 0.471 AC: 31994 AN: 67996

Other (OTH) AF: 0.445 AC: 937 AN: 2106

Alfa AF: 0.455 Hom.: 36183

Bravo AF: 0.444

Asia WGS AF: 0.437 AC: 1521 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.077
DANN	Benign	0.23
PhyloP100		-2.2

Splicing

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

Other links and lift over

dbSNP: rs7699512; hg19: chr4-10125808;