chr20-57495449-A-T

Variant names:

• chr20-57495449-A-T
• rs6025590
• ENST00000522557.2:c.-1124T>A

Variant summary

Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The ENST00000522557.2(HMGB1P1):​c.-1124T>A variant causes a upstream gene change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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: not found (cov: 33)
• Consequence: HMGB1P1 ENST00000522557.2 upstream_gene
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -6.28

Genes affected

HMGB1P1 (HGNC:4993): (high mobility group box 1 pseudogene 1) This gene may represent an evolving retropseudogene of the high-mobility group box 1 gene, which has multiple pseudogenes. This gene has an intact open reading frame, where the length of encoded protein is conserved, compared to the high-mobility group box 1 protein. However, due to the lack of conclusive evidence for specific transcription at this location, this locus is currently represented as a pseudogene. [provided by RefSeq, Jan 2010]

ACMG classification

Verdict is Likely_benign. Variant got -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).

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
HMGB1P1	ENST00000522557.2	c.-1124T>A		upstream_gene_variant		6		ENSP00000508468.1

Frequencies

GnomAD3 genomes Cov.: 33

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

GnomAD4 genome Cov.: 33

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.35
DANN	Benign	0.38

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6025590; hg19: chr20-56070505;