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NM_000077.4(CDKN2A):c.434T>C (p.Ile145Thr)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jun 11, 2021)
Last evaluated:
Oct 30, 2020
Accession:
VCV000182420.10
Variation ID:
182420
Description:
single nucleotide variant
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NM_000077.4(CDKN2A):c.434T>C (p.Ile145Thr)

Allele ID
180311
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9p21.3
Genomic location
9: 21970925 (GRCh38) GRCh38 UCSC
9: 21970924 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.21970924A>G
NC_000009.12:g.21970925A>G
NM_000077.4:c.434T>C NP_000068.1:p.Ile145Thr missense
... more HGVS
Protein change
I145T, I94T
Other names
p.I145T:ATA>ACA
Canonical SPDI
NC_000009.12:21970924:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA299049
dbSNP: rs730881680
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 7, 2018 RCV000160418.5
Uncertain significance 1 criteria provided, single submitter Oct 30, 2020 RCV000200632.5
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Sep 16, 2020 RCV000771213.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CDKN2A - - GRCh38
GRCh37
873 962

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 07, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000210951.14
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This variant is denoted CDKN2A c.434T>C at the cDNA level, p.Ile145Thr (I145T) at the protein level, and results in the change of an Isoleucine to … (more)
Likely benign
(May 13, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001184060.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
In silico models in agreement (benign);Other data supporting benign classification
Uncertain significance
(Oct 30, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary melanoma
Allele origin: germline
Invitae
Accession: SCV000254245.6
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces isoleucine with threonine at codon 145 of the CDKN2A (p16INK4a) protein (p.Ile145Thr). The isoleucine residue is weakly conserved and there is … (more)
Uncertain significance
(Sep 16, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000903253.3
Submitted: (Jun 11, 2021)
Evidence details
Comment:
This missense variant replaces isoleucine with threonine at codon 145 of the CDKN2A (p16INK4A) protein. Computational prediction suggests that this variant may not impact protein … (more)

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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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs730881680...

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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 Jun 19, 2021