NM_078626.3(CDKN2C):c.230C>A (p.Ala77Glu) AND Multiple myeloma

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 31, 2019
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000984122.1

Allele description [Variation Report for NM_078626.3(CDKN2C):c.230C>A (p.Ala77Glu)]

NM_078626.3(CDKN2C):c.230C>A (p.Ala77Glu)

Gene:

CDKN2C:cyclin dependent kinase inhibitor 2C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p32.3

Genomic location:

Preferred name:

NM_078626.3(CDKN2C):c.230C>A (p.Ala77Glu)

HGVS:

NC_000001.11:g.50973993C>A
NM_001262.3:c.230C>A
NM_078626.3:c.230C>AMANE SELECT
NP_001253.1:p.Ala77Glu
NP_523240.1:p.Ala77Glu
NC_000001.10:g.51439665C>A
p.A77E

Protein change:

A77E

Links:

dbSNP: rs746646631

NCBI 1000 Genomes Browser:

rs746646631

Molecular consequence:

NM_001262.3:c.230C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_078626.3:c.230C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Multiple myeloma (MM)
Synonyms:: Plasma cell myeloma; Kahler disease; Myelomatosis; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009693; MeSH: D009101; MedGen: C0026764; Orphanet: 29073; Orphanet: 85443; OMIM: 254500; Human Phenotype Ontology: HP:0006775

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001132092	Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center	no assertion criteria provided	Likely pathogenic (Aug 31, 2019)	somatic	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001132092

Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center

no assertion criteria provided

Likely pathogenic
(Aug 31, 2019)

somatic

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center, SCV001132092.1

#	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	somatic	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 1, 2024

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