chr5-150033215-A-G

Position:

• chr5-150033215-A-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_014983.3(HMGXB3):​c.1983+612A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.167 in 152,032 control chromosomes in the GnomAD database, including 2,631 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 0.17 (2631 hom., cov: 31)
• Consequence: HMGXB3 NM_014983.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.10

Genes affected

HMGXB3 (HGNC:28982): (HMG-box containing 3) This gene is one of the non-canonical high mobility group (HMG) genes. The encoded protein contains an HMG-box domain found in DNA binding proteins such as transcription factors and chromosomal proteins. [provided by RefSeq, Aug 2011]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.265 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
HMGXB3	NM_014983.3	c.1983+612A>G		intron_variant		ENST00000502717.6	NP_055798.3
HMGXB3	NM_001366501.2	c.1485+612A>G		intron_variant			NP_001353430.1
HMGXB3	XM_047416963.1	c.1983+612A>G		intron_variant			XP_047272919.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
HMGXB3	ENST00000502717.6	c.1983+612A>G		intron_variant		1	NM_014983.3	ENSP00000421917	P2

Frequencies

GnomAD3 genomes AF: 0.167 AC: 25418 AN: 151914 Hom.: 2628 Cov.: 31

Gnomad AFR AF: 0.268

Gnomad AMI AF: 0.134

Gnomad AMR AF: 0.272

Gnomad ASJ AF: 0.145

Gnomad EAS AF: 0.104

Gnomad SAS AF: 0.0408

Gnomad FIN AF: 0.0904

Gnomad MID AF: 0.199

Gnomad NFE AF: 0.110

Gnomad OTH AF: 0.178

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

GnomAD4 genome AF: 0.167 AC: 25448 AN: 152032 Hom.: 2631 Cov.: 31 AF XY: 0.167 AC XY: 12389 AN XY: 74344

Gnomad4 AFR AF: 0.268

Gnomad4 AMR AF: 0.272

Gnomad4 ASJ AF: 0.145

Gnomad4 EAS AF: 0.104

Gnomad4 SAS AF: 0.0404

Gnomad4 FIN AF: 0.0904

Gnomad4 NFE AF: 0.110

Gnomad4 OTH AF: 0.176

Alfa AF: 0.0999 Hom.: 211

Bravo AF: 0.189

Asia WGS AF: 0.0910 AC: 320 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.020
DANN	Benign	0.67

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Publications

LitVar

Other links and lift over

dbSNP: rs6890492; hg19: chr5-149412778;