rs7151781

Variant names:

• chr14-43017765-T-C
• rs7151781

Your query was ambiguous. Multiple possible variants found:

• chr14-43017765-T-C
• chr14-43017765-T-G

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 0.447 in 151,720 control chromosomes in the GnomAD database, including 16,642 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 0.45 (16642 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.31
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.654 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: 0.446 AC: 67687 AN: 151602 Hom.: 16604 Cov.: 31

Gnomad AFR AF: 0.660

Gnomad AMI AF: 0.424

Gnomad AMR AF: 0.452

Gnomad ASJ AF: 0.380

Gnomad EAS AF: 0.353

Gnomad SAS AF: 0.314

Gnomad FIN AF: 0.279

Gnomad MID AF: 0.370

Gnomad NFE AF: 0.363

Gnomad OTH AF: 0.417

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

GnomAD4 genome AF: 0.447 AC: 67785 AN: 151720 Hom.: 16642 Cov.: 31 AF XY: 0.441 AC XY: 32728 AN XY: 74130

African (AFR) AF: 0.661 AC: 27355 AN: 41382

American (AMR) AF: 0.452 AC: 6872 AN: 15210

Ashkenazi Jewish (ASJ) AF: 0.380 AC: 1318 AN: 3468

East Asian (EAS) AF: 0.354 AC: 1806 AN: 5106

South Asian (SAS) AF: 0.313 AC: 1508 AN: 4812

European-Finnish (FIN) AF: 0.279 AC: 2947 AN: 10564

Middle Eastern (MID) AF: 0.364 AC: 107 AN: 294

European-Non Finnish (NFE) AF: 0.363 AC: 24614 AN: 67864

Other (OTH) AF: 0.413 AC: 871 AN: 2108

Alfa AF: 0.334 Hom.: 1570

Bravo AF: 0.470

Asia WGS AF: 0.348 AC: 1208 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.30
DANN	Benign	0.45
PhyloP100		-1.3

Splicing

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

Other links and lift over

dbSNP: rs7151781; hg19: chr14-43486968;