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NM_030952.3(NUAK2):c.1535C>T (p.Ala512Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 4, 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:
RCV004289585.1

Allele description [Variation Report for NM_030952.3(NUAK2):c.1535C>T (p.Ala512Val)]

NM_030952.3(NUAK2):c.1535C>T (p.Ala512Val)

Gene:
NUAK2:NUAK family kinase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.1
Genomic location:
Preferred name:
NM_030952.3(NUAK2):c.1535C>T (p.Ala512Val)
HGVS:
  • NC_000001.11:g.205303802G>A
  • NM_030952.3:c.1535C>TMANE SELECT
  • NP_112214.3:p.Ala512Val
  • NC_000001.10:g.205272930G>A
  • NM_030952.1:c.1535C>T
Protein change:
A512V
Molecular consequence:
  • NM_030952.3:c.1535C>T - 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
SCV003949192Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 4, 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, SCV003949192.2

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

Description

The c.1535C>T (p.A512V) alteration is located in exon 7 (coding exon 7) of the NUAK2 gene. This alteration results from a C to T substitution at nucleotide position 1535, causing the alanine (A) at amino acid position 512 to be replaced by a valine (V). 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