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NM_001032283.3(TMPO):c.565+2268A>T AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 8, 2014
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:
RCV000183970.9

Allele description [Variation Report for NM_001032283.3(TMPO):c.565+2268A>T]

NM_001032283.3(TMPO):c.565+2268A>T

Gene:
TMPO:thymopoietin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q23.1
Genomic location:
Preferred name:
NM_001032283.3(TMPO):c.565+2268A>T
Other names:
p.I617F:ATT>TTT
HGVS:
  • NC_000012.12:g.98534106A>T
  • NG_021393.1:g.23534A>T
  • NM_001032283.3:c.565+2268A>TMANE SELECT
  • NM_001032284.3:c.565+2268A>T
  • NM_001307975.2:c.565+2268A>T
  • NM_003276.2:c.1849A>T
  • NP_003267.1:p.Ile617Phe
  • LRG_443t2:c.1849A>T
  • LRG_443:g.23534A>T
  • LRG_443p2:p.Ile617Phe
  • NC_000012.11:g.98927884A>T
Protein change:
I617F
Links:
dbSNP: rs759832690
NCBI 1000 Genomes Browser:
rs759832690
Molecular consequence:
  • NM_001032283.3:c.565+2268A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001032284.3:c.565+2268A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001307975.2:c.565+2268A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003276.2:c.1849A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000236463GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Oct 8, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000236463.10

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

Description

The I617F variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The I617F variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The I617F variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is class conserved in most mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Missense mutations in nearby residues have not been reported, indicating this region of the protein may be tolerant of change. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in CARDIOMYOPATHY panel(s).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 25, 2025