NM_004958.4(MTOR):c.7528+12_7528+13del AND not provided

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

Germline classification:: Likely benign (1 submission)
Last evaluated:: Dec 25, 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:: RCV003551205.1

Allele description

NM_004958.4(MTOR):c.7528+12_7528+13del

Gene:

MTOR:mechanistic target of rapamycin kinase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1p36.22

Genomic location:

Preferred name:

NM_004958.4(MTOR):c.7528+12_7528+13del

HGVS:

NC_000001.11:g.11109277_11109278del
NG_033239.1:g.158274_158275del
NM_001386500.1:c.7528+12_7528+13del
NM_001386501.1:c.6280+12_6280+13del
NM_004958.4:c.7528+12_7528+13delMANE SELECT
LRG_734:g.158274_158275del
NC_000001.10:g.11169334_11169335del

Molecular consequence:

NM_001386500.1:c.7528+12_7528+13del - intron variant - [Sequence Ontology: SO:0001627]
NM_001386501.1:c.6280+12_6280+13del - intron variant - [Sequence Ontology: SO:0001627]
NM_004958.4:c.7528+12_7528+13del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Homo sapiens chemokine (C-C motif) ligand 15, mRNA (cDNA clone MGC:176618 IMAGE:...
Homo sapiens chemokine (C-C motif) ligand 15, mRNA (cDNA clone MGC:176618 IMAGE:9056753), complete cds
gi|187955016|gb|BC140941.1|

Nucleotide
Homo sapiens cDNA FLJ54969 complete cds
Homo sapiens cDNA FLJ54969 complete cds
gi|194377997|dbj|AK301943.1|

Nucleotide
Mus musculus 9 days embryo whole body cDNA, RIKEN full-length enriched library, ...
Mus musculus 9 days embryo whole body cDNA, RIKEN full-length enriched library, clone:D030017C16 product:translocase of outer mitochondrial membrane 40 homolog (yeast), full insert sequence
gi|74211239|dbj|AK164222.1|

Nucleotide
Mus musculus apolipoprotein C-II, mRNA (cDNA clone MGC:117889 IMAGE:5124519), co...
Mus musculus apolipoprotein C-II, mRNA (cDNA clone MGC:117889 IMAGE:5124519), complete cds
gi|76779796|gb|BC106108.1|

Nucleotide
Mus musculus biogenesis of lysosome-related organelles complex-1, subunit 3, mRN...
Mus musculus biogenesis of lysosome-related organelles complex-1, subunit 3, mRNA (cDNA clone MGC:49187 IMAGE:5025443), complete cds
gi|27881630|gb|BC043666.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004273099	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Dec 25, 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

SCV004273099

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Dec 25, 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 Invitae, SCV004273099.1

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

#	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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