NM_001014283.2(DCUN1D2):c.635C>T (p.Thr212Ile) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 22, 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:: RCV004346721.1

Allele description [Variation Report for NM_001014283.2(DCUN1D2):c.635C>T (p.Thr212Ile)]

NM_001014283.2(DCUN1D2):c.635C>T (p.Thr212Ile)

Gene:

DCUN1D2:defective in cullin neddylation 1 domain containing 2 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q34

Genomic location:

Preferred name:

NM_001014283.2(DCUN1D2):c.635C>T (p.Thr212Ile)

HGVS:

NC_000013.11:g.113459377G>A
NM_001014283.2:c.635C>TMANE SELECT
NP_001014305.1:p.Thr212Ile
NC_000013.10:g.114113692G>A
NM_001014283.1:c.635C>T

Protein change:

T212I

Molecular consequence:

NM_001014283.2:c.635C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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60 KDa heat shock protein, partial [Agrobacterium sp. 181]
60 KDa heat shock protein, partial [Agrobacterium sp. 181]
gi|297500451|gb|ADI43662.1|

Protein
Rhizobium sp. 15T33 16S ribosomal RNA gene, partial sequence
Rhizobium sp. 15T33 16S ribosomal RNA gene, partial sequence
gi|807782945|gb|KR094831.1|

Nucleotide
Pantoea sp. 15R55 16S ribosomal RNA gene, partial sequence
Pantoea sp. 15R55 16S ribosomal RNA gene, partial sequence
gi|807782936|gb|KR094822.1|

Nucleotide
Mus musculus arachidonate lipoxygenase, epidermal (Alox12e), mRNA
Mus musculus arachidonate lipoxygenase, epidermal (Alox12e), mRNA
gi|1343071435|ref|NM_145684.2|

Nucleotide
Danio rerio v-maf musculoaponeurotic fibrosarcoma oncogene homolog f (avian), mR...
Danio rerio v-maf musculoaponeurotic fibrosarcoma oncogene homolog f (avian), mRNA (cDNA clone MGC:63868 IMAGE:6789366), complete cds
gi|31419407|gb|BC053121.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004069528	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 22, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004069528

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 22, 2023)

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, SCV004069528.2

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

Description

The c.635C>T (p.T212I) alteration is located in exon 6 (coding exon 6) of the DCUN1D2 gene. This alteration results from a C to T substitution at nucleotide position 635, causing the threonine (T) at amino acid position 212 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, 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: Nov 10, 2024

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