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NM_003336.4(UBE2A):c.373del (p.Gln125fs)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jun 25, 2018)
Last evaluated:
May 24, 2018
Accession:
VCV000559652.1
Variation ID:
559652
Description:
1bp deletion
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NM_003336.4(UBE2A):c.373del (p.Gln125fs)

Allele ID
550375
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
Xq24
Genomic location
X: 119583168 (GRCh38) GRCh38 UCSC
X: 118717131 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.118717132del
NC_000023.11:g.119583169del
NG_009267.1:g.13634del
... more HGVS
Protein change
Q125fs, Q92fs, Q95fs
Other names
-
Canonical SPDI
NC_000023.11:119583167:CC:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1556244406
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided May 24, 2018 RCV000677425.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
UBE2A Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
34 201

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 24, 2018)
no assertion criteria provided
Method: clinical testing
Syndromic mental retardation, Nascimento type, X-linked
Allele origin: germline
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals
Accession: SCV000803732.1
Submitted: (Jun 25, 2018)
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 rs1556244406...

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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 Nov 27, 2021