NM_031844.3(HNRNPU):c.374A>C (p.Glu125Ala) AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 4, 2020
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000954016.6

Allele description [Variation Report for NM_031844.3(HNRNPU):c.374A>C (p.Glu125Ala)]

NM_031844.3(HNRNPU):c.374A>C (p.Glu125Ala)

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.374A>C (p.Glu125Ala)

HGVS:

NC_000001.11:g.244863934T>G
NG_042184.1:g.5592A>C
NM_004501.3:c.374A>C
NM_031844.3:c.374A>CMANE SELECT
NP_004492.2:p.Glu125Ala
NP_114032.2:p.Glu125Ala
NC_000001.10:g.245027236T>G
NC_000001.10:g.245027236T>G
NM_031844.2:c.374A>C

Protein change:

E125A

Links:

dbSNP: rs199765762

NCBI 1000 Genomes Browser:

rs199765762

Molecular consequence:

NM_004501.3:c.374A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_031844.3:c.374A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Bacillus subtilis strain AEL2 16S ribosomal RNA gene, partial sequence
Bacillus subtilis strain AEL2 16S ribosomal RNA gene, partial sequence
gi|1445064866|gb|MH733006.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001764004	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Aug 4, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001764004

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Aug 4, 2020)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001764004.1

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

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

Last Updated: Sep 29, 2024

ClinVar

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