rs7159743

Variant names:

• chr14-95818749-A-G
• rs7159743

Your query was ambiguous. Multiple possible variants found:

• chr14-95818749-A-G
• chr14-95818749-A-T

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 0.36 in 151,978 control chromosomes in the GnomAD database, including 10,577 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 0.36 (10577 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.573
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.501 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: 0.360 AC: 54659 AN: 151860 Hom.: 10563 Cov.: 32

Gnomad AFR AF: 0.507

Gnomad AMI AF: 0.139

Gnomad AMR AF: 0.361

Gnomad ASJ AF: 0.241

Gnomad EAS AF: 0.347

Gnomad SAS AF: 0.230

Gnomad FIN AF: 0.293

Gnomad MID AF: 0.291

Gnomad NFE AF: 0.301

Gnomad OTH AF: 0.343

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

GnomAD4 genome AF: 0.360 AC: 54716 AN: 151978 Hom.: 10577 Cov.: 32 AF XY: 0.356 AC XY: 26427 AN XY: 74284

African (AFR) AF: 0.507 AC: 20991 AN: 41414

American (AMR) AF: 0.361 AC: 5510 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.241 AC: 835 AN: 3462

East Asian (EAS) AF: 0.347 AC: 1792 AN: 5162

South Asian (SAS) AF: 0.230 AC: 1110 AN: 4816

European-Finnish (FIN) AF: 0.293 AC: 3090 AN: 10562

Middle Eastern (MID) AF: 0.293 AC: 86 AN: 294

European-Non Finnish (NFE) AF: 0.301 AC: 20460 AN: 67976

Other (OTH) AF: 0.339 AC: 715 AN: 2110

Alfa AF: 0.288 Hom.: 3360

Bravo AF: 0.374

Asia WGS AF: 0.308 AC: 1073 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	1.2
DANN	Benign	0.51
PhyloP100		-0.57

Splicing

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

Other links and lift over

dbSNP: rs7159743; hg19: chr14-96285086;