rs7162626

Variant names:

• chr15-48652418-G-A
• rs7162626
• NR_183871.1:n.*158G>A

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NR_183871.1(FBN1-DT):​n.*158G>A variant causes a downstream gene change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.531 in 152,056 control chromosomes in the GnomAD database, including 25,615 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 0.53 (25615 hom., cov: 32)
• Consequence: FBN1-DT NR_183871.1 downstream_gene
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.908
• Publications: 1 publications found

Genes affected

FBN1-DT (HGNC:55413): (FBN1 divergent transcript)

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.69).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.691 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
FBN1-DT	NR_183871.1	n.*158G>A		downstream_gene_variant
FBN1-DT	NR_183872.1	n.*158G>A		downstream_gene_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.531 AC: 80687 AN: 151938 Hom.: 25615 Cov.: 32

Gnomad AFR AF: 0.163

Gnomad AMI AF: 0.512

Gnomad AMR AF: 0.642

Gnomad ASJ AF: 0.744

Gnomad EAS AF: 0.440

Gnomad SAS AF: 0.628

Gnomad FIN AF: 0.666

Gnomad MID AF: 0.674

Gnomad NFE AF: 0.696

Gnomad OTH AF: 0.578

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

GnomAD4 genome AF: 0.531 AC: 80697 AN: 152056 Hom.: 25615 Cov.: 32 AF XY: 0.534 AC XY: 39700 AN XY: 74306

African (AFR) AF: 0.163 AC: 6753 AN: 41476

American (AMR) AF: 0.642 AC: 9804 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.744 AC: 2577 AN: 3466

East Asian (EAS) AF: 0.441 AC: 2278 AN: 5168

South Asian (SAS) AF: 0.630 AC: 3035 AN: 4816

European-Finnish (FIN) AF: 0.666 AC: 7037 AN: 10568

Middle Eastern (MID) AF: 0.660 AC: 194 AN: 294

European-Non Finnish (NFE) AF: 0.696 AC: 47340 AN: 67982

Other (OTH) AF: 0.573 AC: 1213 AN: 2116

Alfa AF: 0.573 Hom.: 8578

Bravo AF: 0.513

Asia WGS AF: 0.449 AC: 1565 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.69
CADD	Benign	14
DANN	Benign	0.46
PhyloP100		0.91

Splicing

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

Other links and lift over

dbSNP: rs7162626; hg19: chr15-48944615;