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NM_016320.5(NUP98):c.1899T>A (p.Asp633Glu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 9, 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:
RCV004488664.1

Allele description [Variation Report for NM_016320.5(NUP98):c.1899T>A (p.Asp633Glu)]

NM_016320.5(NUP98):c.1899T>A (p.Asp633Glu)

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.1899T>A (p.Asp633Glu)
HGVS:
  • NC_000011.10:g.3723404A>T
  • NM_001365125.2:c.1899T>A
  • NM_001365126.2:c.1950T>A
  • NM_001365127.2:c.1875T>A
  • NM_001365128.2:c.1848T>A
  • NM_001365129.2:c.1758T>A
  • NM_005387.7:c.1950T>A
  • NM_016320.5:c.1899T>AMANE SELECT
  • NM_139131.5:c.1899T>A
  • NM_139132.4:c.1899T>A
  • NP_001352054.1:p.Asp633Glu
  • NP_001352055.1:p.Asp650Glu
  • NP_001352056.1:p.Asp625Glu
  • NP_001352057.1:p.Asp616Glu
  • NP_001352058.1:p.Asp586Glu
  • NP_005378.4:p.Asp650Glu
  • NP_057404.2:p.Asp633Glu
  • NP_624357.1:p.Asp633Glu
  • NP_624358.2:p.Asp633Glu
  • NC_000011.9:g.3744634A>T
  • NM_016320.4:c.1899T>A
  • NR_157589.2:n.2082T>A
  • NR_157590.2:n.2082T>A
  • NR_157591.1:n.2125T>A
Protein change:
D586E
Molecular consequence:
  • NM_001365125.2:c.1899T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365126.2:c.1950T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365127.2:c.1875T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365128.2:c.1848T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365129.2:c.1758T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005387.7:c.1950T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016320.5:c.1899T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139131.5:c.1899T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139132.4:c.1899T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_157589.2:n.2082T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_157590.2:n.2082T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_157591.1:n.2125T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004994737Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 9, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004994737.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1899T>A (p.D633E) alteration is located in exon 16 (coding exon 15) of the NUP98 gene. This alteration results from a T to A substitution at nucleotide position 1899, causing the aspartic acid (D) at amino acid position 633 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024