NM_016320.5(NUP98):c.1927A>G (p.Thr643Ala) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 12, 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:: RCV004323910.1

Allele description [Variation Report for NM_016320.5(NUP98):c.1927A>G (p.Thr643Ala)]

NM_016320.5(NUP98):c.1927A>G (p.Thr643Ala)

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.1927A>G (p.Thr643Ala)

HGVS:

NC_000011.10:g.3723376T>C
NM_001365125.2:c.1927A>G
NM_001365126.2:c.1978A>G
NM_001365127.2:c.1903A>G
NM_001365128.2:c.1876A>G
NM_001365129.2:c.1786A>G
NM_005387.7:c.1978A>G
NM_016320.5:c.1927A>GMANE SELECT
NM_139131.5:c.1927A>G
NM_139132.4:c.1927A>G
NP_001352054.1:p.Thr643Ala
NP_001352055.1:p.Thr660Ala
NP_001352056.1:p.Thr635Ala
NP_001352057.1:p.Thr626Ala
NP_001352058.1:p.Thr596Ala
NP_005378.4:p.Thr660Ala
NP_057404.2:p.Thr643Ala
NP_624357.1:p.Thr643Ala
NP_624358.2:p.Thr643Ala
NC_000011.9:g.3744606T>C
NM_016320.4:c.1927A>G
NR_157589.2:n.2110A>G
NR_157590.2:n.2110A>G
NR_157591.1:n.2153A>G

Protein change:

T596A

Molecular consequence:

NM_001365125.2:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001365126.2:c.1978A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001365127.2:c.1903A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001365128.2:c.1876A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001365129.2:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_005387.7:c.1978A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_016320.5:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_139131.5:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_139132.4:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_157589.2:n.2110A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_157590.2:n.2110A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_157591.1:n.2153A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003992128	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 12, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003992128

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 12, 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, SCV003992128.2

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

Description

The c.1927A>G (p.T643A) alteration is located in exon 16 (coding exon 15) of the NUP98 gene. This alteration results from a A to G substitution at nucleotide position 1927, causing the threonine (T) at amino acid position 643 to be replaced by an alanine (A). 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: Oct 26, 2024

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