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NM_052902.4(STK11IP):c.1633C>T (p.Pro545Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 9, 2024
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:
RCV004668099.1

Allele description [Variation Report for NM_052902.4(STK11IP):c.1633C>T (p.Pro545Ser)]

NM_052902.4(STK11IP):c.1633C>T (p.Pro545Ser)

Gene:
STK11IP:serine/threonine kinase 11 interacting protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_052902.4(STK11IP):c.1633C>T (p.Pro545Ser)
HGVS:
  • NC_000002.12:g.219608612C>T
  • NG_097668.1:g.446C>T
  • NM_052902.4:c.1633C>TMANE SELECT
  • NP_443134.3:p.Pro545Ser
  • NC_000002.11:g.220473334C>T
  • NM_052902.2:c.1666C>T
Protein change:
P545S
Molecular consequence:
  • NM_052902.4:c.1633C>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
SCV005165212Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 9, 2024) 		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, SCV005165212.1

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

Description

The c.1666C>T (p.P556S) alteration is located in exon 15 (coding exon 15) of the STK11IP gene. This alteration results from a C to T substitution at nucleotide position 1666, causing the proline (P) at amino acid position 556 to be replaced by a serine (S). 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: Aug 11, 2024