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NM_015354.3(NUP188):c.1504C>T (p.Leu502Phe) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 14, 2022
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:
RCV002777030.2

Allele description [Variation Report for NM_015354.3(NUP188):c.1504C>T (p.Leu502Phe)]

NM_015354.3(NUP188):c.1504C>T (p.Leu502Phe)

Gene:
NUP188:nucleoporin 188 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_015354.3(NUP188):c.1504C>T (p.Leu502Phe)
HGVS:
  • NC_000009.12:g.128981378C>T
  • NG_033111.1:g.38686C>T
  • NM_015354.3:c.1504C>TMANE SELECT
  • NP_056169.1:p.Leu502Phe
  • NC_000009.11:g.131743657C>T
  • NM_015354.1:c.1504C>T
Protein change:
L502F
Molecular consequence:
  • NM_015354.3:c.1504C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003584647Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 14, 2022) 		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, SCV003584647.2

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

Description

The c.1504C>T (p.L502F) alteration is located in exon 15 (coding exon 15) of the NUP188 gene. This alteration results from a C to T substitution at nucleotide position 1504, causing the leucine (L) at amino acid position 502 to be replaced by a phenylalanine (F). 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 1, 2024