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NM_001759.4(CCND2):c.839C>T (p.Thr280Ile)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Mar 5, 2021)
Last evaluated:
Aug 7, 2018
Accession:
VCV000666559.2
Variation ID:
666559
Description:
single nucleotide variant
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NM_001759.4(CCND2):c.839C>T (p.Thr280Ile)

Allele ID
654137
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p13.32
Genomic location
12: 4409144 (GRCh37) GRCh37 UCSC
12: 4299978 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.4409144C>T
NC_000012.12:g.4299978C>T
NM_001759.4:c.839C>T MANE Select NP_001750.1:p.Thr280Ile missense
NG_034254.1:g.31243C>T
Protein change
T280I
Other names
-
Canonical SPDI
NC_000012.12:4299977:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Links
dbSNP: rs587777620
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Aug 7, 2018 RCV000824980.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CCND2 - - GRCh38
GRCh37
31 97

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Aug 07, 2018)
criteria provided, single submitter
Method: clinical testing
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
Allele origin: de novo
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
Accession: SCV000966158.1
Submitted: (Feb 15, 2019)
Evidence details
Uncertain significance
(Apr 13, 2018)
criteria provided, single submitter
Method: clinical testing
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
Allele origin: unknown
Baylor Genetics
Accession: SCV001529769.1
Submitted: (Mar 05, 2021)
Evidence details
Comment:
This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs587777620...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Apr 08, 2021