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NM_018328.4(MBD5):c.69G>A (p.Val23=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Sep 24, 2021)
Last evaluated:
Nov 3, 2020
Accession:
VCV000198228.7
Variation ID:
198228
Description:
single nucleotide variant
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NM_018328.4(MBD5):c.69G>A (p.Val23=)

Allele ID
195389
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q23.1
Genomic location
2: 148458827 (GRCh38) GRCh38 UCSC
2: 149216396 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.149216396G>A
NC_000002.12:g.148458827G>A
NG_017003.1:g.442817G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:148458826:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00004
The Genome Aggregation Database (gnomAD) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00006
1000 Genomes Project 0.00040
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA246770
dbSNP: rs151204004
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Oct 10, 2016 RCV000717134.1
Benign 1 criteria provided, single submitter Oct 20, 2020 RCV001083053.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Nov 3, 2020 RCV000724527.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MBD5 Sufficient evidence for dosage pathogenicity Little evidence for dosage pathogenicity GRCh38
GRCh37
787 852

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 20, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000231757.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Oct 10, 2016)
criteria provided, single submitter
Method: clinical testing
History of neurodevelopmental disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000847980.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Synonymous alterations with insufficient evidence to classify as benign
Benign
(Oct 20, 2020)
criteria provided, single submitter
Method: clinical testing
Mental retardation, autosomal dominant 1
Allele origin: germline
Invitae
Accession: SCV000767017.4
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Nov 03, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000518323.4
Submitted: (Sep 24, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=MBD5 - - - -

Text-mined citations for rs151204004...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 16, 2021