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NM_004843.4(IL27RA):c.1348A>T (p.Thr450Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 4, 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:
RCV004628038.1

Allele description [Variation Report for NM_004843.4(IL27RA):c.1348A>T (p.Thr450Ser)]

NM_004843.4(IL27RA):c.1348A>T (p.Thr450Ser)

Gene:
IL27RA:interleukin 27 receptor subunit alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.12
Genomic location:
Preferred name:
NM_004843.4(IL27RA):c.1348A>T (p.Thr450Ser)
HGVS:
  • NC_000019.10:g.14049260A>T
  • NM_004843.4:c.1348A>TMANE SELECT
  • NP_004834.1:p.Thr450Ser
  • NC_000019.9:g.14160072A>T
  • NM_004843.2:c.1348A>T
Protein change:
T450S
Molecular consequence:
  • NM_004843.4:c.1348A>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
SCV005125091Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 4, 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, SCV005125091.1

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

Description

The c.1348A>T (p.T450S) alteration is located in exon 10 (coding exon 10) of the IL27RA gene. This alteration results from a A to T substitution at nucleotide position 1348, causing the threonine (T) at amino acid position 450 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