rs7152826

Variant names:

• chr14-35393198-C-A
• rs7152826

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 0.485 in 152,076 control chromosomes in the GnomAD database, including 20,210 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 0.49 (20210 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.372
• Publications: 11 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.618 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: 0.486 AC: 73795 AN: 151958 Hom.: 20210 Cov.: 32

Gnomad AFR AF: 0.237

Gnomad AMI AF: 0.395

Gnomad AMR AF: 0.435

Gnomad ASJ AF: 0.553

Gnomad EAS AF: 0.316

Gnomad SAS AF: 0.612

Gnomad FIN AF: 0.662

Gnomad MID AF: 0.462

Gnomad NFE AF: 0.623

Gnomad OTH AF: 0.487

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

GnomAD4 genome AF: 0.485 AC: 73831 AN: 152076 Hom.: 20210 Cov.: 32 AF XY: 0.486 AC XY: 36108 AN XY: 74322

African (AFR) AF: 0.237 AC: 9831 AN: 41498

American (AMR) AF: 0.435 AC: 6657 AN: 15298

Ashkenazi Jewish (ASJ) AF: 0.553 AC: 1920 AN: 3472

East Asian (EAS) AF: 0.316 AC: 1633 AN: 5172

South Asian (SAS) AF: 0.610 AC: 2941 AN: 4818

European-Finnish (FIN) AF: 0.662 AC: 6997 AN: 10564

Middle Eastern (MID) AF: 0.449 AC: 131 AN: 292

European-Non Finnish (NFE) AF: 0.623 AC: 42321 AN: 67940

Other (OTH) AF: 0.492 AC: 1042 AN: 2116

Alfa AF: 0.574 Hom.: 47630

Bravo AF: 0.456

Asia WGS AF: 0.452 AC: 1576 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	3.0
DANN	Benign	0.67
PhyloP100		-0.37

Splicing

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

Other links and lift over

dbSNP: rs7152826; hg19: chr14-35862404;