NM_182943.3(PLOD2):c.1848+162del AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jul 21, 2018
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:: RCV001584009.3

Allele description [Variation Report for NM_182943.3(PLOD2):c.1848+162del]

NM_182943.3(PLOD2):c.1848+162del

Gene:

PLOD2:procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3q24

Genomic location:

Preferred name:

NM_182943.3(PLOD2):c.1848+162del

HGVS:

NC_000003.12:g.146072400del
NG_009251.1:g.94097del
NM_000935.3:c.1785+162del
NM_182943.3:c.1848+162delMANE SELECT
NC_000003.11:g.145790187del

Links:

dbSNP: rs202042741

NCBI 1000 Genomes Browser:

rs202042741

Molecular consequence:

NM_000935.3:c.1785+162del - intron variant - [Sequence Ontology: SO:0001627]
NM_182943.3:c.1848+162del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Gossypium alpha-expansin 6 (EXPA6) gene, partial cds.
Gossypium alpha-expansin 6 (EXPA6) gene, partial cds.
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MULTISPECIES: 30S ribosomal protein S13 [Pseudomonadaceae]
MULTISPECIES: 30S ribosomal protein S13 [Pseudomonadaceae]
gi|504667106|ref|WP_014854208.1|

Protein
Taxonomy Links for Nucleotide (Select 302703805) (1)
Taxonomy
cytochrome b (mitochondrion) [Myioborus pictus]
cytochrome b (mitochondrion) [Myioborus pictus]
gi|66062430|gb|AAY42810.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001818366	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Jul 21, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001818366

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Jul 21, 2018)

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, SCV001818366.1

#	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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