NM_004064.5(CDKN1B):c.225G>C (p.Glu75Asp) AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Jul 12, 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:: RCV003478281.1

Allele description [Variation Report for NM_004064.5(CDKN1B):c.225G>C (p.Glu75Asp)]

NM_004064.5(CDKN1B):c.225G>C (p.Glu75Asp)

Gene:

CDKN1B:cyclin dependent kinase inhibitor 1B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.1

Genomic location:

Preferred name:

NM_004064.5(CDKN1B):c.225G>C (p.Glu75Asp)

HGVS:

NC_000012.12:g.12718064G>C
NG_016341.1:g.5697G>C
NM_004064.5:c.225G>CMANE SELECT
NP_004055.1:p.Glu75Asp
NP_004055.1:p.Glu75Asp
NC_000012.11:g.12870998G>C
NM_004064.3:c.225G>C
NM_004064.4:c.225G>C

Protein change:

E75D

Links:

dbSNP: rs139727620

NCBI 1000 Genomes Browser:

rs139727620

Molecular consequence:

NM_004064.5:c.225G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004220749	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Benign (Jul 12, 2023)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 31760486, 34322384, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004220749

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Benign
(Jul 12, 2023)

unknown

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Congenital dyserythropoietic anemia type I mimicking myelodysplasia syndrome with a novel CDAN1 mutation.

Lv X, Dong S, Lan F, Zhang B, Chen H, Jin R.

Ann Hematol. 2020 Jan;99(1):197-199. doi: 10.1007/s00277-019-03848-y. Epub 2019 Nov 23. No abstract available.

PubMed [citation]

PMID:: 31760486

Next-Generation Sequencing Enhances the Diagnosis Efficiency in Thyroid Nodules.

Tan LC, Liu WL, Zhu XL, Yu PC, Shi X, Han PZ, Zhang L, Lin LY, Semenov A, Wang Y, Ji QH, Ji DM, Wang YL, Qu N.

Front Oncol. 2021;11:677892. doi: 10.3389/fonc.2021.677892.

PubMed [citation]

PMID:: 34322384
PMCID:: PMC8312558

See all PubMed Citations (3)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004220749.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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