rs7153027

Variant names:

• chr14-91960878-A-C
• rs7153027

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.437 in 151,656 control chromosomes in the GnomAD database, including 15,049 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 (15049 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.654

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.54).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.539 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: 0.437 AC: 66272 AN: 151538 Hom.: 15041 Cov.: 30

Gnomad AFR AF: 0.545

Gnomad AMI AF: 0.437

Gnomad AMR AF: 0.296

Gnomad ASJ AF: 0.486

Gnomad EAS AF: 0.274

Gnomad SAS AF: 0.389

Gnomad FIN AF: 0.411

Gnomad MID AF: 0.411

Gnomad NFE AF: 0.421

Gnomad OTH AF: 0.426

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

GnomAD4 genome AF: 0.437 AC: 66298 AN: 151656 Hom.: 15049 Cov.: 30 AF XY: 0.431 AC XY: 31930 AN XY: 74090

Gnomad4 AFR AF: 0.545

Gnomad4 AMR AF: 0.296

Gnomad4 ASJ AF: 0.486

Gnomad4 EAS AF: 0.275

Gnomad4 SAS AF: 0.387

Gnomad4 FIN AF: 0.411

Gnomad4 NFE AF: 0.421

Gnomad4 OTH AF: 0.422

Alfa AF: 0.420 Hom.: 31927

Bravo AF: 0.434

Asia WGS AF: 0.341 AC: 1185 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.54
CADD	Benign	1.8
DANN	Benign	0.95

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7153027; hg19: chr14-92427222;