NM_001034850.3(RETREG1):c.1450AAG[1] (p.Lys485del) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 24, 2020
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:: RCV002461264.2

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)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

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PREDICTED: 5'/3'-nucleotidase SurE [Cucumis melo]
PREDICTED: 5'/3'-nucleotidase SurE [Cucumis melo]
gi|659093628|ref|XP_008447629.1|

Protein
AT-hook motif nuclear-localized protein 23-like [Cucumis melo]
AT-hook motif nuclear-localized protein 23-like [Cucumis melo]
gi|659132002|ref|XP_008465963.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002754949	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 24, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002754949

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 24, 2020)

germline

clinical testing

Citation Link

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

Details of each submission

From Ambry Genetics, SCV002754949.2

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

Description

The c.1453_1455delAAG variant (also known as p.K485del) is located in coding exon 9 of the FAM134B gene. This variant results from an in-frame deletion of 3 nucleotides at nucleotide positions 1453 to 1455. This results in an in-frame deletion of a lysine residue at codon 485. This amino acid position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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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