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NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 14, 2021
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:
RCV002314674.9

Allele description [Variation Report for NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu)]

NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu)

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.236G>A (p.Gly79Glu)
Other names:
p.G79E:GGA>GAA
HGVS:
  • NC_000002.12:g.148463758G>A
  • NG_017003.2:g.447748G>A
  • NM_001378120.1:c.236G>AMANE SELECT
  • NM_018328.5:c.236G>A
  • NP_001365049.1:p.Gly79Glu
  • NP_060798.2:p.Gly79Glu
  • NP_060798.2:p.Gly79Glu
  • NC_000002.11:g.149221327G>A
  • NM_018328.4:c.236G>A
Protein change:
G79E
Links:
dbSNP: rs34995577
NCBI 1000 Genomes Browser:
rs34995577
Molecular consequence:
  • NM_001378120.1:c.236G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018328.5:c.236G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000847582Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Dec 14, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV000847582.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024