NM_003482.4(KMT2D):c.15876G>C (p.Glu5292Asp) AND Astrocytoma

Germline classification:: Uncertain significance (1 submission)
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:: RCV000599612.1

Allele description [Variation Report for NM_003482.4(KMT2D):c.15876G>C (p.Glu5292Asp)]

NM_003482.4(KMT2D):c.15876G>C (p.Glu5292Asp)

Gene:

KMT2D:lysine methyltransferase 2D [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.12

Genomic location:

Preferred name:

NM_003482.4(KMT2D):c.15876G>C (p.Glu5292Asp)

HGVS:

NC_000012.12:g.49024855C>G
NG_027827.1:g.35470G>C
NM_003482.4:c.15876G>CMANE SELECT
NP_003473.3:p.Glu5292Asp
NP_003473.3:p.Glu5292Asp
NC_000012.11:g.49418638C>G
NM_003482.3:c.15876G>C

Protein change:

E5292D

Links:

dbSNP: rs1365163460

NCBI 1000 Genomes Browser:

rs1365163460

Molecular consequence:

NM_003482.4:c.15876G>C - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

Uncertain function

Condition(s)

Name:: Astrocytoma
Synonyms:: Astrocytoma (excluding glioblastoma)
Identifiers:: MONDO: MONDO:0019781; MeSH: D001254; MedGen: C0004114; Human Phenotype Ontology: HP:0009592

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RecName: Full=Ras-related protein Ral-A; Flags: Precursor
RecName: Full=Ras-related protein Ral-A; Flags: Precursor
gi|54038996|sp|P63322.1|RALA_RAT

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000692561	Laboratory of Molecular Neuropathology, The University of Texas Health Science Center at Houston	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	somatic	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000692561

Laboratory of Molecular Neuropathology, The University of Texas Health Science Center at Houston

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance

somatic

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Laboratory of Molecular Neuropathology, The University of Texas Health Science Center at Houston, SCV000692561.1

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

#	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: Apr 23, 2022

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