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NM_207308.3(NUP210L):c.5206G>A (p.Val1736Met) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 27, 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:
RCV004150713.1

Allele description [Variation Report for NM_207308.3(NUP210L):c.5206G>A (p.Val1736Met)]

NM_207308.3(NUP210L):c.5206G>A (p.Val1736Met)

Gene:
NUP210L:nucleoporin 210 like [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q21.3
Genomic location:
Preferred name:
NM_207308.3(NUP210L):c.5206G>A (p.Val1736Met)
HGVS:
  • NC_000001.11:g.154001036C>T
  • NM_001159484.1:c.4931-5856G>A
  • NM_207308.3:c.5206G>AMANE SELECT
  • NP_997191.2:p.Val1736Met
  • NP_997191.2:p.Val1736Met
  • NC_000001.10:g.153973512C>T
  • NM_207308.2:c.5206G>A
Protein change:
V1736M
Molecular consequence:
  • NM_001159484.1:c.4931-5856G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_207308.3:c.5206G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV003643004Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 27, 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, SCV003643004.2

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

Description

The c.5206G>A (p.V1736M) alteration is located in exon 37 (coding exon 37) of the NUP210L gene. This alteration results from a G to A substitution at nucleotide position 5206, causing the valine (V) at amino acid position 1736 to be replaced by a methionine (M). 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: Nov 10, 2024