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NM_018328.4(MBD5):c.4271C>A (p.Pro1424His)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(3);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Jul 4, 2021)
Last evaluated:
Jul 1, 2020
Accession:
VCV000435826.8
Variation ID:
435826
Description:
single nucleotide variant
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NM_018328.4(MBD5):c.4271C>A (p.Pro1424His)

Allele ID
427908
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q23.1
Genomic location
2: 148502443 (GRCh38) GRCh38 UCSC
2: 149260012 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.149260012C>A
NC_000002.12:g.148502443C>A
NG_017003.1:g.486433C>A
... more HGVS
Protein change
P1424H
Other names
-
Canonical SPDI
NC_000002.12:148502442:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00003
The Genome Aggregation Database (gnomAD) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00006
The Genome Aggregation Database (gnomAD), exomes 0.00002
Links
ClinGen: CA1900509
dbSNP: rs775673512
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 Mar 9, 2017 RCV000504040.1
Likely benign 1 criteria provided, single submitter Oct 9, 2018 RCV001452025.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jul 1, 2020 RCV000887625.4
Uncertain significance 1 no assertion criteria provided Sep 1, 2017 RCV000781978.1
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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
Likely benign
(Mar 09, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000595713.1
Submitted: (Jul 05, 2017)
Evidence details
Likely benign
(Oct 09, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001031196.1
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(Oct 09, 2018)
criteria provided, single submitter
Method: clinical testing
Mental retardation, autosomal dominant 1
Allele origin: germline
Invitae
Accession: SCV001655671.1
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Jul 01, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001371020.4
Submitted: (Jul 04, 2021)
Evidence details
Uncertain significance
(Sep 01, 2017)
no assertion criteria provided
Method: clinical testing
Seizures
Allele origin: germline
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital
Accession: SCV000920433.1
Submitted: (Feb 28, 2019)
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs775673512...

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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 07, 2021