rs7141857

Variant names:

• chr14-84197944-T-C
• rs7141857

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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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;