rs7141857

chr14-84197944-T-C

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 0.583 in 151,800 control chromosomes in the GnomAD database, including 26,295 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 0.58 (26295 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0790

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 (EAS) allele frequency at 95% confidence interval = 0.778 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.583 AC: 88409 AN: 151682 Hom.: 26279 Cov.: 30

Gnomad AFR AF: 0.499

Gnomad AMI AF: 0.717

Gnomad AMR AF: 0.625

Gnomad ASJ AF: 0.691

Gnomad EAS AF: 0.798

Gnomad SAS AF: 0.713

Gnomad FIN AF: 0.474

Gnomad MID AF: 0.766

Gnomad NFE AF: 0.605

Gnomad OTH AF: 0.647

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

GnomAD4 genome AF: 0.583 AC: 88461 AN: 151800 Hom.: 26295 Cov.: 30 AF XY: 0.583 AC XY: 43214 AN XY: 74186

Gnomad4 AFR AF: 0.499

Gnomad4 AMR AF: 0.625

Gnomad4 ASJ AF: 0.691

Gnomad4 EAS AF: 0.799

Gnomad4 SAS AF: 0.712

Gnomad4 FIN AF: 0.474

Gnomad4 NFE AF: 0.605

Gnomad4 OTH AF: 0.647

Alfa AF: 0.569 Hom.: 3656

Bravo AF: 0.594

Asia WGS AF: 0.734 AC: 2549 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	0.21
Dann	Benign	0.51

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7141857; hg19: chr14-84664288;