rs7148411

Variant names:

• chr14-20091123-G-A
• rs7148411

Your query was ambiguous. Multiple possible variants found:

• chr14-20091123-G-A
• chr14-20091123-G-C
• chr14-20091123-G-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 0.657 in 151,912 control chromosomes in the GnomAD database, including 34,417 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 0.66 (34417 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0330
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.745 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: 0.658 AC: 99825 AN: 151794 Hom.: 34405 Cov.: 33

Gnomad AFR AF: 0.437

Gnomad AMI AF: 0.886

Gnomad AMR AF: 0.698

Gnomad ASJ AF: 0.789

Gnomad EAS AF: 0.668

Gnomad SAS AF: 0.656

Gnomad FIN AF: 0.797

Gnomad MID AF: 0.701

Gnomad NFE AF: 0.750

Gnomad OTH AF: 0.666

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

GnomAD4 genome AF: 0.657 AC: 99881 AN: 151912 Hom.: 34417 Cov.: 33 AF XY: 0.660 AC XY: 48998 AN XY: 74252

African (AFR) AF: 0.437 AC: 18119 AN: 41424

American (AMR) AF: 0.698 AC: 10636 AN: 15240

Ashkenazi Jewish (ASJ) AF: 0.789 AC: 2735 AN: 3466

East Asian (EAS) AF: 0.669 AC: 3462 AN: 5176

South Asian (SAS) AF: 0.656 AC: 3158 AN: 4816

European-Finnish (FIN) AF: 0.797 AC: 8430 AN: 10582

Middle Eastern (MID) AF: 0.682 AC: 199 AN: 292

European-Non Finnish (NFE) AF: 0.750 AC: 50920 AN: 67892

Other (OTH) AF: 0.670 AC: 1414 AN: 2112

Alfa AF: 0.651 Hom.: 3825

Bravo AF: 0.643

Asia WGS AF: 0.677 AC: 2348 AN: 3466

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.8
DANN	Benign	0.23
PhyloP100		-0.033

Splicing

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

Other links and lift over

dbSNP: rs7148411; hg19: chr14-20559282;