NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Benign(1);Likely benign(1);Uncertain significance(1) (Last evaluated: Apr 3, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000724572.3

Allele description [Variation Report for NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln)]

NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln)

Gene:
MBD5:methyl-CpG binding domain protein 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q23.1
Genomic location:
Preferred name:
NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln)
HGVS:
  • NC_000002.12:g.148468542G>A
  • NG_017003.2:g.452532G>A
  • NM_001378120.1:c.599G>AMANE SELECT
  • NM_018328.4:c.599G>A
  • NM_018328.5:c.599G>A
  • NP_001365049.1:p.Arg200Gln
  • NP_060798.2:p.Arg200Gln
  • NP_060798.2:p.Arg200Gln
  • NC_000002.11:g.149226111G>A
  • NC_000002.11:g.149226111G>A
Protein change:
R200Q
Links:
dbSNP: rs149278000
NCBI 1000 Genomes Browser:
rs149278000
Molecular consequence:
  • NM_001378120.1:c.599G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018328.4:c.599G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018328.5:c.599G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000233141EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Jul 27, 2018)
germlineclinical testing

Citation Link,

SCV000617113GeneDxcriteria provided, single submitter
Benign
(Dec 4, 2019)
germlineclinical testing

Citation Link,

SCV001476679Athena Diagnostics Inccriteria provided, single submitter
Likely benign
(Apr 3, 2020)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown3not providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000233141.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

From GeneDx, SCV000617113.3

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

From Athena Diagnostics Inc, SCV001476679.1

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

Last Updated: Oct 25, 2021

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