NM_001378120.1(MBD5):c.1638C>T (p.Ala546=) AND not provided

Clinical significance:Likely benign (Last evaluated: Apr 1, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV001532411.2

Allele description [Variation Report for NM_001378120.1(MBD5):c.1638C>T (p.Ala546=)]

NM_001378120.1(MBD5):c.1638C>T (p.Ala546=)

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.1638C>T (p.Ala546=)
Other names:
p.A546A:GCC>GCT
HGVS:
  • NC_000002.12:g.148469581C>T
  • NG_017003.2:g.453571C>T
  • NM_001378120.1:c.1638C>TMANE SELECT
  • NM_018328.4:c.1638C>T
  • NM_018328.5:c.1638C>T
  • NP_001365049.1:p.Ala546=
  • NP_060798.2:p.Ala546=
  • NP_060798.2:p.Ala546=
  • NC_000002.11:g.149227150C>T
Links:
dbSNP: rs116413446
NCBI 1000 Genomes Browser:
rs116413446
Molecular consequence:
  • NM_001378120.1:c.1638C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_018328.4:c.1638C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_018328.5:c.1638C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001747967CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely benign
(Apr 1, 2021)
germlineclinical testing

Citation Link,

SCV001962742Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensusno assertion criteria providedLikely benigngermlineclinical testing

SCV001967992Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001747967.1

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

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001962742.1

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001967992.1

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

Last Updated: Oct 30, 2021

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