NM_001034850.3(RETREG1):c.1450AAG[1] (p.Lys485del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 26, 2021
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:: RCV000702424.7

Allele description [Variation Report for NM_001034850.3(RETREG1):c.1450AAG[1] (p.Lys485del)]

NM_001034850.3(RETREG1):c.1450AAG[1] (p.Lys485del)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

5p15.1

Genomic location:

Preferred name:

NM_001034850.3(RETREG1):c.1450AAG[1] (p.Lys485del)

HGVS:

NC_000005.10:g.16474780CTT[1]
NC_000005.9:g.16474889_16474891del
NG_016644.2:g.147225AAG[1]
NM_001034850.3:c.1450AAG[1]MANE SELECT
NM_019000.5:c.1027AAG[1]
NP_001030022.1:p.Lys485del
NP_061873.2:p.Lys344del
LRG_363:g.147225AAG[1]
NC_000005.9:g.16474889CTT[1]
NC_000005.9:g.16474889_16474891del
NC_000005.9:g.16474889_16474891delCTT
NM_001034850.1:c.1453_1455delAAG
NM_001034850.2:c.1453_1455delAAG

Protein change:

K344del

Links:

dbSNP: rs758081460

NCBI 1000 Genomes Browser:

rs758081460

Molecular consequence:

NM_001034850.3:c.1450AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_019000.5:c.1027AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Antaeotricha leucillana voucher PPBP-0310 cytochrome oxidase subunit 1 (COI) gen...
Antaeotricha leucillana voucher PPBP-0310 cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrial
gi|908320192|gnl|uoguelph|LPSO310-0 -5P|gb|KM544028.1|

Nucleotide
SART3 protein [Homo sapiens]
SART3 protein [Homo sapiens]
gi|27371322|gb|AAH41638.1|

Protein
unnamed protein product [Homo sapiens]
unnamed protein product [Homo sapiens]
gi|194379396|dbj|BAG63664.1|

Protein
cytochrome oxidase subunit 1, partial (mitochondrion) [Antaeotricha leucillana]
cytochrome oxidase subunit 1, partial (mitochondrion) [Antaeotricha leucillana]
gi|268372101|gb|ACZ03299.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000831278	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Nov 26, 2021)	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

SCV000831278

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Nov 26, 2021)

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, SCV000831278.6

#	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.1453_1455del, results in the deletion of 1 amino acid(s) of the RETREG1 protein (p.Lys485del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs758081460, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with RETREG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 439686). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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