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NM_014043.4(CHMP2B):c.560G>A (p.Ser187Asn) AND not specified

Germline classification:
Benign (3 submissions)
Last evaluated:
Nov 30, 2016
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000249485.10

Allele description [Variation Report for NM_014043.4(CHMP2B):c.560G>A (p.Ser187Asn)]

NM_014043.4(CHMP2B):c.560G>A (p.Ser187Asn)

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.560G>A (p.Ser187Asn)
HGVS:
  • NC_000003.12:g.87253740G>A
  • NG_007885.1:g.31478G>A
  • NM_001244644.2:c.437G>A
  • NM_014043.4:c.560G>AMANE SELECT
  • NP_001231573.1:p.Ser146Asn
  • NP_054762.2:p.Ser187Asn
  • NC_000003.11:g.87302890G>A
  • NM_014043.3:c.560G>A
Protein change:
S146N
Links:
dbSNP: rs78268395
NCBI 1000 Genomes Browser:
rs78268395
Molecular consequence:
  • NM_001244644.2:c.437G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014043.4:c.560G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000312021PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benigngermlineclinical testing

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

SCV000343494Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Benign
(Jul 19, 2016)
germlineclinical testing

Citation Link,

SCV000612729Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)
Benign
(Nov 30, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical 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

Novel missense mutation in charged multivesicular body protein 2B in a patient with frontotemporal dementia.

Ferrari R, Kapogiannis D, Huey ED, Grafman J, Hardy J, Momeni P.

Alzheimer Dis Assoc Disord. 2010 Oct-Dec;24(4):397-401. doi: 10.1097/WAD.0b013e3181df20c7.

PubMed [citation]
PMID:
20592581
PMCID:
PMC2974047
See all PubMed Citations (4)

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV000312021.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Eurofins Ntd Llc (ga), SCV000343494.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Athena Diagnostics, SCV000612729.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024