NM_002128.7(HMGB1):c.618_620del (p.Glu206del) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 28, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002657538.2

Allele description [Variation Report for NM_002128.7(HMGB1):c.618_620del (p.Glu206del)]

NM_002128.7(HMGB1):c.618_620del (p.Glu206del)

Gene:

HMGB1:high mobility group box 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

13q12.3

Genomic location:

Preferred name:

NM_002128.7(HMGB1):c.618_620del (p.Glu206del)

HGVS:

NC_000013.11:g.30461387_30461389del
NM_001313892.2:c.618_620del
NM_001313893.1:c.618_620del
NM_001363661.2:c.*191_*193del
NM_001370339.1:c.*296_*298del
NM_001370340.1:c.618_620del
NM_001370341.1:c.618_620del
NM_002128.7:c.618_620delMANE SELECT
NP_001300821.1:p.Glu206del
NP_001300822.1:p.Glu206del
NP_001357269.1:p.Glu206del
NP_001357270.1:p.Glu206del
NP_002119.1:p.Glu206del
NC_000013.10:g.31035524_31035526del
NM_002128.4:c.618_620delAGA

Protein change:

E206del

Molecular consequence:

NM_001363661.2:c.*191_*193del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001370339.1:c.*296_*298del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001313892.2:c.618_620del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001313893.1:c.618_620del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001370340.1:c.618_620del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001370341.1:c.618_620del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_002128.7:c.618_620del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003720069	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 28, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003720069

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 28, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003720069.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.618_620delAGA (p.E206del) alteration is located in exon 5 (coding exon 4) of the HMGB1 gene. This alteration consists of an in-frame deletion of 3 nucleotides between nucleotide positions c.618 and c.620, resulting in the deletion of 1 residue. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

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