NM_031844.3(HNRNPU):c.255GGA[5] (p.Glu93_Glu94dup) AND Developmental and epileptic encephalopathy, 54

Germline classification:: Likely benign (1 submission)
Last evaluated:: Apr 29, 2021
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:: RCV003089088.10

Allele description [Variation Report for NM_031844.3(HNRNPU):c.255GGA[5] (p.Glu93_Glu94dup)]

NM_031844.3(HNRNPU):c.255GGA[5] (p.Glu93_Glu94dup)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

1q44

Genomic location:

Preferred name:

NM_031844.3(HNRNPU):c.255GGA[5] (p.Glu93_Glu94dup)

HGVS:

NC_000001.11:g.244864047CTC[5]
NG_042184.1:g.5473GGA[5]
NM_004501.3:c.255GGA[5]
NM_031844.3:c.255GGA[5]MANE SELECT
NP_004492.2:p.Glu93_Glu94dup
NP_114032.2:p.Glu93_Glu94dup
NC_000001.10:g.245027346_245027347insTCCTCC
NC_000001.10:g.245027349CTC[5]

Links:

dbSNP: rs772147656

NCBI 1000 Genomes Browser:

rs772147656

Molecular consequence:

NM_004501.3:c.255GGA[5] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_031844.3:c.255GGA[5] - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

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

Recent activity

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Homo sapiens acid phosphatase 1 (ACP1), transcript variant 3, mRNA
Homo sapiens acid phosphatase 1 (ACP1), transcript variant 3, mRNA
gi|1519312739|ref|NM_004300.4|

Nucleotide
PREDICTED: Homo sapiens syntrophin gamma 2 (SNTG2), transcript variant X12, mRNA
PREDICTED: Homo sapiens syntrophin gamma 2 (SNTG2), transcript variant X12, mRNA
gi|2462574419|ref|XM_054342607.1|

Nucleotide
myelin transcription factor 1-like protein isoform 2 [Homo sapiens]
myelin transcription factor 1-like protein isoform 2 [Homo sapiens]
gi|1049017923|ref|NP_001316777.1|

Protein
myelin transcription factor 1-like protein isoform X6 [Homo sapiens]
myelin transcription factor 1-like protein isoform X6 [Homo sapiens]
gi|2462571196|ref|XP_054197035.1|

Protein
Homo sapiens myelin transcription factor 1 like (MYT1L), transcript variant 9, m...
Homo sapiens myelin transcription factor 1 like (MYT1L), transcript variant 9, mRNA
gi|1890336276|ref|NM_001329851.3|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002492080	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Apr 29, 2021)	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

SCV002492080

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Apr 29, 2021)

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, SCV002492080.3

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

#	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: Nov 10, 2024

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