Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_005342.4(HMGB3):c.480_481dup (p.Lys161fs)

Help
Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
2
First in ClinVar:
Feb 9, 2014
Most recent Submission:
Feb 13, 2015
Last evaluated:
Jul 3, 2014
Accession:
VCV000140456.1
Variation ID:
140456
Description:
2bp microsatellite
Help

NM_005342.4(HMGB3):c.480_481dup (p.Lys161fs)

Allele ID
150140
Variant type
Microsatellite
Variant length
2 bp
Cytogenetic location
Xq28
Genomic location
X: 150987788-150987789 (GRCh38) GRCh38 UCSC
X: 150156261-150156262 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_005342.4:c.480_481dup MANE Select NP_005333.2:p.Lys161fs frameshift
NM_001301228.2:c.480_481dup NP_001288157.1:p.Lys161fs frameshift
NM_001301229.2:c.480_481dup NP_001288158.1:p.Lys161fs frameshift
... more HGVS
Protein change
K181fs, K161fs
Other names
-
Canonical SPDI
NC_000023.11:150987788:TATA:TATATA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA215011
OMIM: 300193.0001
dbSNP: rs431825172
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
not provided 1 no assertion provided - RCV000083250.1
Pathogenic 1 no assertion criteria provided Jul 3, 2014 RCV000128635.4
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HMGB3 - - GRCh38
GRCh37
6 192

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Pathogenic
(Jul 03, 2014)
no assertion criteria provided
Method: literature only
Affected status: not provided
Allele origin: germline
OMIM
Accession: SCV000172270.3
First in ClinVar: Jul 20, 2014
Last updated: Feb 13, 2015
Publications:
PubMed (2)
PubMed: 499808524993872
Comment on evidence:
In an affected man from a Maine kindred segregating X-linked colobomatous microphthalmia, microcephaly, short stature, and intellectual disability (MCOPS13; 300915), originally reported by Goldberg and … (more)
not provided
(-)
no assertion provided
Method: not provided
Affected status: not provided
Allele origin: germline
Johns Hopkins Genetic Resources Core Facility; Johns Hopkins University
Accession: SCV000115324.1
First in ClinVar: Feb 09, 2014
Last updated: Feb 09, 2014
Comment:
Maine Microphthalmia

Functional evidence

Help
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

Help
Title Author Journal Year Link
Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing. Scott AF JAMA ophthalmology 2014 PMID: 24993872
X-linked colobomatous microphthalmos and other congenital anomalies. A disorder resembling Lenz's dysmorphogenetic syndrome. Goldberg MF American journal of ophthalmology 1971 PMID: 4998085

Text-mined citations for rs431825172...

Help
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 Apr 25, 2022