rs7146221

Variant names:

• chr14-94302744-G-A
• rs7146221

Your query was ambiguous. Multiple possible variants found:

• chr14-94302744-G-A
• chr14-94302744-G-C

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 0.509 in 151,986 control chromosomes in the GnomAD database, including 20,105 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 0.51 (20105 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.580
• Publications: 7 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 = 0.612 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: 0.509 AC: 77281 AN: 151866 Hom.: 20073 Cov.: 31

Gnomad AFR AF: 0.619

Gnomad AMI AF: 0.557

Gnomad AMR AF: 0.519

Gnomad ASJ AF: 0.393

Gnomad EAS AF: 0.456

Gnomad SAS AF: 0.539

Gnomad FIN AF: 0.425

Gnomad MID AF: 0.456

Gnomad NFE AF: 0.460

Gnomad OTH AF: 0.524

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

GnomAD4 genome AF: 0.509 AC: 77369 AN: 151986 Hom.: 20105 Cov.: 31 AF XY: 0.510 AC XY: 37881 AN XY: 74300

African (AFR) AF: 0.619 AC: 25649 AN: 41452

American (AMR) AF: 0.519 AC: 7929 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.393 AC: 1362 AN: 3468

East Asian (EAS) AF: 0.456 AC: 2353 AN: 5160

South Asian (SAS) AF: 0.538 AC: 2593 AN: 4824

European-Finnish (FIN) AF: 0.425 AC: 4491 AN: 10558

Middle Eastern (MID) AF: 0.452 AC: 133 AN: 294

European-Non Finnish (NFE) AF: 0.460 AC: 31231 AN: 67924

Other (OTH) AF: 0.530 AC: 1121 AN: 2114

Alfa AF: 0.472 Hom.: 11388

Bravo AF: 0.516

Asia WGS AF: 0.536 AC: 1867 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	0.88
DANN	Benign	0.23
PhyloP100		-0.58

Splicing

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

Other links and lift over

dbSNP: rs7146221; hg19: chr14-94769081;