rs32930

Variant names:

• chr5-141733360-A-G
• rs32930
• ENST00000653358.1:n.279-14057T>C

Variant summary

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

The ENST00000653358.1(ENSG00000286736):​n.279-14057T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.431 in 151,960 control chromosomes in the GnomAD database, including 15,546 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 0.43 (15546 hom., cov: 31)
• Consequence: ENSG00000286736 ENST00000653358.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.714
• Publications: 6 publications found

Genes affected

ENSG00000286736 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.671 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
ENSG00000286736	ENST00000653358.1	n.279-14057T>C		intron_variant	Intron 1 of 1
ENSG00000286736	ENST00000732555.1	n.136-14057T>C		intron_variant	Intron 1 of 1
ENSG00000286736	ENST00000732556.1	n.274-14057T>C		intron_variant	Intron 2 of 2

Frequencies

GnomAD3 genomes AF: 0.431 AC: 65516 AN: 151844 Hom.: 15546 Cov.: 31

Gnomad AFR AF: 0.227

Gnomad AMI AF: 0.326

Gnomad AMR AF: 0.381

Gnomad ASJ AF: 0.463

Gnomad EAS AF: 0.690

Gnomad SAS AF: 0.586

Gnomad FIN AF: 0.512

Gnomad MID AF: 0.377

Gnomad NFE AF: 0.524

Gnomad OTH AF: 0.429

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

GnomAD4 genome AF: 0.431 AC: 65525 AN: 151960 Hom.: 15546 Cov.: 31 AF XY: 0.431 AC XY: 32006 AN XY: 74262

African (AFR) AF: 0.227 AC: 9407 AN: 41474

American (AMR) AF: 0.380 AC: 5814 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.463 AC: 1601 AN: 3460

East Asian (EAS) AF: 0.690 AC: 3555 AN: 5150

South Asian (SAS) AF: 0.586 AC: 2817 AN: 4810

European-Finnish (FIN) AF: 0.512 AC: 5402 AN: 10548

Middle Eastern (MID) AF: 0.374 AC: 110 AN: 294

European-Non Finnish (NFE) AF: 0.524 AC: 35603 AN: 67930

Other (OTH) AF: 0.437 AC: 919 AN: 2104

Alfa AF: 0.488 Hom.: 31343

Bravo AF: 0.411

Asia WGS AF: 0.623 AC: 2167 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.76
DANN	Benign	0.63
PhyloP100		-0.71

Splicing

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

Other links and lift over

dbSNP: rs32930; hg19: chr5-141112927;