NM_014043.4(CHMP2B):c.581C>T (p.Ser194Leu) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 25, 2019
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:: RCV000991798.2

Allele description

NM_014043.4(CHMP2B):c.581C>T (p.Ser194Leu)

Gene:

CHMP2B:charged multivesicular body protein 2B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p11.2

Genomic location:

Preferred name:

NM_014043.4(CHMP2B):c.581C>T (p.Ser194Leu)

HGVS:

NC_000003.12:g.87253761C>T
NG_007885.1:g.31499C>T
NM_001244644.2:c.458C>T
NM_014043.4:c.581C>TMANE SELECT
NP_001231573.1:p.Ser153Leu
NP_054762.2:p.Ser194Leu
NC_000003.11:g.87302911C>T
NM_014043.3:c.581C>T

Protein change:

S153L

Links:

dbSNP: rs149380040

NCBI 1000 Genomes Browser:

rs149380040

Molecular consequence:

NM_001244644.2:c.458C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_014043.4:c.581C>T - 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
SCV001143555	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Uncertain significance (Mar 25, 2019)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 20625756, 29486463, 23155438, 22521643, 22527221, 26777436, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001143555

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Uncertain significance
(Mar 25, 2019)

germline

clinical testing

PubMed (7)
[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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

CHMP2B mutations are rare in French families with frontotemporal lobar degeneration.

Ghanim M, Guillot-Noel L, Pasquier F, Jornea L, Deramecourt V, Dubois B, Le Ber I, Brice A; French Research Network on FTD and FTD/MND..

J Neurol. 2010 Dec;257(12):2032-6. doi: 10.1007/s00415-010-5655-8. Epub 2010 Jul 14.

PubMed [citation]

PMID:: 20625756

Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project.

Blue EE, Bis JC, Dorschner MO, Tsuang DW, Barral SM, Beecham G, Below JE, Bush WS, Butkiewicz M, Cruchaga C, DeStefano A, Farrer LA, Goate A, Haines J, Jaworski J, Jun G, Kunkle B, Kuzma A, Lee JJ, Lunetta KL, Ma Y, Martin E, et al.

Dement Geriatr Cogn Disord. 2018;45(1-2):1-17. doi: 10.1159/000485503. Epub 2018 Feb 27.

PubMed [citation]

PMID:: 29486463
PMCID:: PMC5971141

See all PubMed Citations (7)

Details of each submission

From Athena Diagnostics, SCV001143555.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (7)

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

Last Updated: Jun 23, 2024

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