NM_001034850.3(RETREG1):c.1368_1373delinsCC (p.Glu456fs) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 7, 2019
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:: RCV001248402.4

Allele description

NM_001034850.3(RETREG1):c.1368_1373delinsCC (p.Glu456fs)

Gene:

RETREG1:reticulophagy regulator 1 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

5p15.1

Genomic location:

Preferred name:

NM_001034850.3(RETREG1):c.1368_1373delinsCC (p.Glu456fs)

HGVS:

NC_000005.10:g.16474862_16474867delinsGG
NG_016644.2:g.147143_147148delinsCC
NM_001034850.3:c.1368_1373delinsCCMANE SELECT
NM_019000.5:c.945_950delinsCC
NP_001030022.1:p.Glu456fs
NP_001030022.1:p.Glu456fs
NP_061873.2:p.Glu315fs
LRG_363t1:c.1368_1373delinsCC
LRG_363:g.147143_147148delinsCC
LRG_363p1:p.Glu456fs
NC_000005.9:g.16474971_16474976delinsGG
NC_000005.9:g.16474971_16474976delinsGG
NM_001034850.2:c.1368_1373delinsCC

Protein change:

E315fs

Links:

dbSNP: rs1738456492

NCBI 1000 Genomes Browser:

rs1738456492

Molecular consequence:

NM_001034850.3:c.1368_1373delinsCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_019000.5:c.945_950delinsCC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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A group of compounds consisting of two aryl rings linked by seven carbons (HEPTANES) which may be acyclic (linear) or cyclic. It is a group of secondary metabolites in polyket...<br/>Year introduced: 2003

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001421886	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Mar 7, 2019)	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

SCV001421886

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Mar 7, 2019)

germline

clinical testing

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

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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 Invitae, SCV001421886.3

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

Description

This variant has not been reported in the literature in individuals with RETREG1-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. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the RETREG1 gene (p.Glu456Aspfs*76). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 42 amino acids of the RETREG1 protein.

#	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: Feb 20, 2024

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