NM_000460.4(THPO):c.617_619dup (p.Asn206_Phe207insTyr) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 7, 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:: RCV003722761.2

Allele description [Variation Report for NM_000460.4(THPO):c.617_619dup (p.Asn206_Phe207insTyr)]

NM_000460.4(THPO):c.617_619dup (p.Asn206_Phe207insTyr)

Gene:

THPO:thrombopoietin [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

3q27.1

Genomic location:

Preferred name:

NM_000460.4(THPO):c.617_619dup (p.Asn206_Phe207insTyr)

HGVS:

NC_000003.12:g.184372956_184372958dup
NG_012136.1:g.10187_10189dup
NM_000460.4:c.617_619dupMANE SELECT
NM_001177597.2:c.605_607dup
NM_001177598.2:c.600_602dup
NM_001289997.1:c.501_503dup
NM_001289998.1:c.617_619dup
NM_001290003.1:c.1037_1039dup
NM_001290022.1:c.605_607dup
NM_001290026.1:c.600_602dup
NM_001290027.1:c.501_503dup
NM_001290028.1:c.617_619dup
NP_000451.1:p.Asn206_Phe207insTyr
NP_001171068.1:p.Asn202_Phe203insTyr
NP_001171069.1:p.Leu201_His202insLeu
NP_001276926.1:p.Leu168_His169insLeu
NP_001276927.1:p.Asn206_Phe207insTyr
NP_001276932.1:p.Asn346_Phe347insTyr
NP_001276951.1:p.Asn202_Phe203insTyr
NP_001276955.1:p.Leu201_His202insLeu
NP_001276956.1:p.Leu168_His169insLeu
NP_001276957.1:p.Asn206_Phe207insTyr
LRG_580t1:c.617_619dup
LRG_580:g.10187_10189dup
LRG_580p1:p.Asn206_Phe207insTyr
NC_000003.11:g.184090743_184090744insAGT
NC_000003.11:g.184090744_184090746dup

Molecular consequence:

NM_000460.4:c.617_619dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001177597.2:c.605_607dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001177598.2:c.600_602dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001289997.1:c.501_503dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001289998.1:c.617_619dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001290003.1:c.1037_1039dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001290022.1:c.605_607dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001290026.1:c.600_602dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001290027.1:c.501_503dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001290028.1:c.617_619dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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MAG: 16S rRNA (cytosine(1402)-N(4))-methyltransferase [Deltaproteobacteria bacte...
MAG: 16S rRNA (cytosine(1402)-N(4))-methyltransferase [Deltaproteobacteria bacterium RBG_16_54_18]
gi|1084753140|gb|OGP95148.1||gnl|WG T|A2Z19_04435

Protein
PREDICTED: Mus musculus intraflagellar transport 22 (Ift22), transcript variant ...
PREDICTED: Mus musculus intraflagellar transport 22 (Ift22), transcript variant X1, mRNA
gi|1907165795|ref|XM_011240905.4|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004517713	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Nov 7, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004517713

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Nov 7, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004517713.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant, c.617_619dup, results in the insertion of 1 amino acid(s) of the THPO protein (p.Asn206_Phe207insTyr), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with THPO-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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