NM_015999.6(ADIPOR1):c.403_404insAAAA (p.Thr135fs) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 15, 2022
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:: RCV002812101.3

Allele description [Variation Report for NM_015999.6(ADIPOR1):c.403_404insAAAA (p.Thr135fs)]

NM_015999.6(ADIPOR1):c.403_404insAAAA (p.Thr135fs)

Gene:

ADIPOR1:adiponectin receptor 1 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

1q32.1

Genomic location:

Preferred name:

NM_015999.6(ADIPOR1):c.403_404insAAAA (p.Thr135fs)

HGVS:

NC_000001.11:g.202946468_202946469insTTTT
NG_052860.1:g.17107_17108insAAAA
NM_001127687.1:c.400_401insAAAA
NM_001290553.2:c.403_404insAAAA
NM_001290557.1:c.403_404insAAAA
NM_001290629.1:c.403_404insAAAA
NM_015999.6:c.403_404insAAAAMANE SELECT
NP_001121159.1:p.Thr135Lysfs
NP_001277482.1:p.Thr135fs
NP_001277486.1:p.Thr135fs
NP_001277558.1:p.Thr135fs
NP_057083.2:p.Thr135fs
NC_000001.10:g.202915593_202915594insTTTT
NC_000001.10:g.202915596_202915597insTTTT

Protein change:

T135fs

Molecular consequence:

NM_001127687.1:c.400_401insAAAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001290553.2:c.403_404insAAAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001290557.1:c.403_404insAAAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001290629.1:c.403_404insAAAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_015999.6:c.403_404insAAAA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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MULTISPECIES: 3-hydroxy-9,10-secoandrosta-1,3,5(10)-triene-9,17-dione monooxygen...
MULTISPECIES: 3-hydroxy-9,10-secoandrosta-1,3,5(10)-triene-9,17-dione monooxygenase oxygenase subunit [Gordonia]
gi|504129400|ref|WP_014361381.1|

Protein
Sequence 116 from Patent WO02081517
Sequence 116 from Patent WO02081517
gi|39722754|emb|AX817368.1||pat|WO| 517|116

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003208561	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jun 15, 2022)	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

SCV003208561

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jun 15, 2022)

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, SCV003208561.2

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

Description

This sequence change creates a premature translational stop signal (p.Thr135Lysfs*129) in the ADIPOR1 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in ADIPOR1 cause disease. 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. This variant has not been reported in the literature in individuals affected with ADIPOR1-related conditions. This variant is not present in population databases (gnomAD no frequency).

#	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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