NM_016464.5(TMEM138):c.300+270dup AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 9, 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:: RCV001571968.3

Allele description [Variation Report for NM_016464.5(TMEM138):c.300+270dup]

NM_016464.5(TMEM138):c.300+270dup

Gene:

TMEM138:transmembrane protein 138 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

11q12.2

Genomic location:

Preferred name:

NM_016464.5(TMEM138):c.300+270dup

HGVS:

NC_000011.10:g.61366486dup
NG_032581.1:g.9486dup
NM_001330281.2:c.126+270dup
NM_016464.5:c.300+270dupMANE SELECT
NC_000011.9:g.61133958dup

Links:

dbSNP: rs879154161

NCBI 1000 Genomes Browser:

rs879154161

Molecular consequence:

NM_001330281.2:c.126+270dup - intron variant - [Sequence Ontology: SO:0001627]
NM_016464.5:c.300+270dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Phoboscincus garnieri voucher AMS:R151964 cytochrome c oxidase subunit I (COI) g...
Phoboscincus garnieri voucher AMS:R151964 cytochrome c oxidase subunit I (COI) gene, partial cds; mitochondrial
gi|1279613660|gb|KX985564.1|

Nucleotide
puroindoline a, partial [Triticum monococcum subsp. monococcum]
puroindoline a, partial [Triticum monococcum subsp. monococcum]
gi|164374580|gb|ABY52397.1|

Protein
Microbacterium aerolatum strain W1510 V2_41, whole genome shotgun sequence
Microbacterium aerolatum strain W1510 V2_41, whole genome shotgun sequence
gi|2231365008|ref|NZ_JALMMA01000004 gnl|WGS:NZ_JALMMA01|V2_41

Nucleotide
Microbacterium aerolatum strain W1510 V2_50, whole genome shotgun sequence
Microbacterium aerolatum strain W1510 V2_50, whole genome shotgun sequence
gi|2231365017|ref|NZ_JALMMA01000005 gnl|WGS:NZ_JALMMA01|V2_50

Nucleotide
Dibutyl Phthalate
Dibutyl Phthalate
A plasticizer used in most plastics and found in water, air, soil, plants and animals. It may have some adverse effects with long-term exposure.<br/>Year introduced: 1991(1977)

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001796534	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Aug 9, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001796534

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Aug 9, 2019)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001796534.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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Relating variation to medicine