NM_001377.3(DYNC2H1):c.12039+5C>G AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 4, 2024
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:: RCV003994988.1

Allele description [Variation Report for NM_001377.3(DYNC2H1):c.12039+5C>G]

NM_001377.3(DYNC2H1):c.12039+5C>G

Gene:

DYNC2H1:dynein cytoplasmic 2 heavy chain 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q22.3

Genomic location:

Preferred name:

NM_001377.3(DYNC2H1):c.12039+5C>G

HGVS:

NC_000011.10:g.103323995C>G
NG_016423.2:g.219565C>G
NM_001080463.2:c.12060+5C>G
NM_001377.3:c.12039+5C>GMANE SELECT
NC_000011.9:g.103194723C>G

Molecular consequence:

NM_001080463.2:c.12060+5C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001377.3:c.12039+5C>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Klebsiella pneumoniae strain FDAARGOS_1076 plasmid unnamed3, complete sequence
Klebsiella pneumoniae strain FDAARGOS_1076 plasmid unnamed3, complete sequence
gi|1960466862|ref|NZ_CP068142.1|

Nucleotide
BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 3 [...
BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 3 [Danio rerio]
gi|47087317|ref|NP_998643.1|

Protein
Tolpis sp. 2 MEM-2009 isolate spNOV2 maturase K (matK) gene, partial cds; chloro...
Tolpis sp. 2 MEM-2009 isolate spNOV2 maturase K (matK) gene, partial cds; chloroplast
gi|268628083|gb|GU046672.1|

Nucleotide
Curimata knerii voucher LBP 12864 53468 myosin heavy chain 6 (myh6) gene, partia...
Curimata knerii voucher LBP 12864 53468 myosin heavy chain 6 (myh6) gene, partial cds
gi|1420809727|gb|MH537544.1|

Nucleotide
RecName: Full=SET domain-containing protein 9
RecName: Full=SET domain-containing protein 9
gi|296434439|sp|Q8NE22.2|SETD9_HUMA

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004813765	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Feb 4, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004813765

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Feb 4, 2024)

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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004813765.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 20, 2024

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