NM_031844.3(HNRNPU):c.255_263del (p.Glu92_Glu94del) AND Developmental and epileptic encephalopathy, 54

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 27, 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:: RCV002890617.3

Allele description [Variation Report for NM_031844.3(HNRNPU):c.255_263del (p.Glu92_Glu94del)]

NM_031844.3(HNRNPU):c.255_263del (p.Glu92_Glu94del)

Gene:

HNRNPU:heterogeneous nuclear ribonucleoprotein U [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1q44

Genomic location:

Preferred name:

NM_031844.3(HNRNPU):c.255_263del (p.Glu92_Glu94del)

HGVS:

NC_000001.11:g.244864047_244864055del
NG_042184.1:g.5473_5481del
NG_094011.1:g.231_239del
NM_004501.3:c.255_263del
NM_031844.3:c.255_263delMANE SELECT
NP_004492.2:p.Glu92_Glu94del
NP_114032.2:p.Glu92_Glu94del
NC_000001.10:g.245027347_245027355del
NC_000001.10:g.245027349_245027357del

Molecular consequence:

NM_004501.3:c.255_263del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_031844.3:c.255_263del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Developmental and epileptic encephalopathy, 54
Synonyms:: Epileptic encephalopathy, early infantile, 54
Identifiers:: MONDO: MONDO:0033363; MedGen: C4479319; OMIM: 617391

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003244265	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 27, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003244265

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 27, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003244265.2

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

Description

Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with HNRNPU-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.255_263del, results in the deletion of 3 amino acid(s) of the HNRNPU protein (p.Glu92_Glu94del), but otherwise preserves the integrity of the reading frame.

#	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: Sep 29, 2024

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