rs7151223

Variant names:

• chr14-48095753-G-A
• rs7151223

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 0.335 in 151,976 control chromosomes in the GnomAD database, including 9,049 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 0.34 (9049 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.330

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.382 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: 0.336 AC: 50961 AN: 151858 Hom.: 9048 Cov.: 33

Gnomad AFR AF: 0.387

Gnomad AMI AF: 0.490

Gnomad AMR AF: 0.282

Gnomad ASJ AF: 0.400

Gnomad EAS AF: 0.0541

Gnomad SAS AF: 0.265

Gnomad FIN AF: 0.264

Gnomad MID AF: 0.433

Gnomad NFE AF: 0.347

Gnomad OTH AF: 0.346

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

GnomAD4 genome AF: 0.335 AC: 50981 AN: 151976 Hom.: 9049 Cov.: 33 AF XY: 0.330 AC XY: 24487 AN XY: 74278

Gnomad4 AFR AF: 0.387

Gnomad4 AMR AF: 0.282

Gnomad4 ASJ AF: 0.400

Gnomad4 EAS AF: 0.0536

Gnomad4 SAS AF: 0.266

Gnomad4 FIN AF: 0.264

Gnomad4 NFE AF: 0.348

Gnomad4 OTH AF: 0.342

Alfa AF: 0.340 Hom.: 21168

Bravo AF: 0.336

Asia WGS AF: 0.189 AC: 661 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	3.4
DANN	Benign	0.62

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7151223; hg19: chr14-48564956;