U.S. flag

An official website of the United States government

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

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 29, 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:
RCV004020240.1

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:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000735826Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 29, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000735826.5

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

Description

The p.I617F variant (also known as c.1849A>T), located in coding exon 4 of the TMPO gene, results from an A to T substitution at nucleotide position 1849. The isoleucine at codon 617 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Feb 25, 2025