NM_016320.5(NUP98):c.2458A>G (p.Ile820Val) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 15, 2023
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:: RCV004359737.1

Allele description [Variation Report for NM_016320.5(NUP98):c.2458A>G (p.Ile820Val)]

NM_016320.5(NUP98):c.2458A>G (p.Ile820Val)

Gene:

NUP98:nucleoporin 98 and 96 precursor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_016320.5(NUP98):c.2458A>G (p.Ile820Val)

HGVS:

NC_000011.10:g.3713937T>C
NM_001365125.2:c.2458A>G
NM_001365126.2:c.2509A>G
NM_001365127.2:c.2434A>G
NM_001365128.2:c.2407A>G
NM_001365129.2:c.2317A>G
NM_005387.7:c.2509A>G
NM_016320.5:c.2458A>GMANE SELECT
NM_139131.5:c.2458A>G
NM_139132.4:c.2458A>G
NP_001352054.1:p.Ile820Val
NP_001352055.1:p.Ile837Val
NP_001352056.1:p.Ile812Val
NP_001352057.1:p.Ile803Val
NP_001352058.1:p.Ile773Val
NP_005378.4:p.Ile837Val
NP_057404.2:p.Ile820Val
NP_624357.1:p.Ile820Val
NP_624358.2:p.Ile820Val
NC_000011.9:g.3735167T>C
NM_016320.4:c.2458A>G
NR_157589.2:n.2641A>G
NR_157590.2:n.2641A>G
NR_157591.1:n.2684A>G

Protein change:

I773V

Molecular consequence:

NM_001365125.2:c.2458A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001365126.2:c.2509A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001365127.2:c.2434A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001365128.2:c.2407A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001365129.2:c.2317A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_005387.7:c.2509A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_016320.5:c.2458A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_139131.5:c.2458A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_139132.4:c.2458A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_157589.2:n.2641A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_157590.2:n.2641A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_157591.1:n.2684A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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zh65h03.s1 Soares_fetal_liver_spleen_1NFLS_S1 Homo sapiens cDNA clone IMAGE:4169...
zh65h03.s1 Soares_fetal_liver_spleen_1NFLS_S1 Homo sapiens cDNA clone IMAGE:416981 3', mRNA sequence
gi|1401596|gnl|dbEST|595695|gb|W875

Nucleotide
60S ribosomal protein L29 [Schizosaccharomyces pombe]
60S ribosomal protein L29 [Schizosaccharomyces pombe]
gi|19113108|ref|NP_596316.1|

Protein
60S ribosomal protein eL24 [Schizosaccharomyces pombe]
60S ribosomal protein eL24 [Schizosaccharomyces pombe]
gi|19075214|ref|NP_587714.1|

Protein
Chain A, S-M checkpoint control protein rad4
Chain A, S-M checkpoint control protein rad4
gi|1494592896|pdb|6HM3|A

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004095560	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 15, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004095560

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 15, 2023)

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, SCV004095560.2

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

Description

The c.2458A>G (p.I820V) alteration is located in exon 19 (coding exon 18) of the NUP98 gene. This alteration results from a A to G substitution at nucleotide position 2458, causing the isoleucine (I) at amino acid position 820 to be replaced by a valine (V). 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: Nov 3, 2024

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