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NM_207363.3(NCKAP5):c.5189C>T (p.Ser1730Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 21, 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:
RCV004209366.1

Allele description [Variation Report for NM_207363.3(NCKAP5):c.5189C>T (p.Ser1730Leu)]

NM_207363.3(NCKAP5):c.5189C>T (p.Ser1730Leu)

Gene:
NCKAP5:NCK associated protein 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q21.2
Genomic location:
Preferred name:
NM_207363.3(NCKAP5):c.5189C>T (p.Ser1730Leu)
HGVS:
  • NC_000002.12:g.132731991G>A
  • NM_207363.3:c.5189C>TMANE SELECT
  • NM_207481.4:c.1232C>T
  • NP_997246.2:p.Ser1730Leu
  • NP_997364.3:p.Ser411Leu
  • NC_000002.11:g.133489564G>A
  • NM_207363.2:c.5189C>T
Protein change:
S1730L
Molecular consequence:
  • NM_207363.3:c.5189C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_207481.4:c.1232C>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
SCV003707743Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 21, 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, SCV003707743.2

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

Description

The c.5189C>T (p.S1730L) alteration is located in exon 17 (coding exon 15) of the NCKAP5 gene. This alteration results from a C to T substitution at nucleotide position 5189, causing the serine (S) at amino acid position 1730 to be replaced by a leucine (L). 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