NM_031844.3(HNRNPU):c.2347A>T (p.Asn783Tyr) AND Developmental and epileptic encephalopathy, 54

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 26, 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:: RCV002573378.10

Allele description [Variation Report for NM_031844.3(HNRNPU):c.2347A>T (p.Asn783Tyr)]

NM_031844.3(HNRNPU):c.2347A>T (p.Asn783Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q44

Genomic location:

Preferred name:

NM_031844.3(HNRNPU):c.2347A>T (p.Asn783Tyr)

HGVS:

NC_000001.11:g.244855429T>A
NG_042184.1:g.14097A>T
NM_004501.3:c.2290A>T
NM_031844.3:c.2347A>TMANE SELECT
NP_004492.2:p.Asn764Tyr
NP_114032.2:p.Asn783Tyr
NC_000001.10:g.245018731T>A

Protein change:

N764Y

Links:

dbSNP: rs925350951

NCBI 1000 Genomes Browser:

rs925350951

Molecular consequence:

NM_004501.3:c.2290A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_031844.3:c.2347A>T - missense variant - [Sequence Ontology: SO:0001583]

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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Bacillus cereus strain 17-4, whole genome shotgun sequencing project
Bacillus cereus strain 17-4, whole genome shotgun sequencing project
gi|1808838527|gb|NJQL00000000.1|NJQ 0000

Nucleotide
Microbe sample from Halorhodospira halochloris
Microbe sample from Halorhodospira halochloris

biosample

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002264214	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (May 26, 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

SCV002264214

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(May 26, 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, SCV002264214.3

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

Description

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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with HNRNPU-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with tyrosine at codon 783 of the HNRNPU protein (p.Asn783Tyr). The asparagine residue is moderately conserved and there is a large physicochemical difference between asparagine and tyrosine.

#	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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