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NM_000035.4(ALDOB):c.156T>G (p.Thr52=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000254731.4
Variation ID:
254731
Description:
single nucleotide variant
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NM_000035.4(ALDOB):c.156T>G (p.Thr52=)

Allele ID
253253
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q31.1
Genomic location
9: 101429923 (GRCh38) GRCh38 UCSC
9: 104192205 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.104192205A>C
NC_000009.12:g.101429923A>C
NM_000035.4:c.156T>G MANE Select NP_000026.2:p.Thr52= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000009.12:101429922:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00359 (C)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00071
Trans-Omics for Precision Medicine (TOPMed) 0.00277
1000 Genomes Project 0.00359
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00338
Exome Aggregation Consortium (ExAC) 0.00084
The Genome Aggregation Database (gnomAD) 0.00242
Links
ClinGen: CA5161715
dbSNP: rs149671008
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Feb 1, 2017 RCV000241597.3
Benign 1 criteria provided, single submitter Dec 4, 2020 RCV000966364.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ALDOB - - GRCh38
GRCh37
273 308

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000301583.1
Submitted: (Apr 28, 2016)
Evidence details
Likely benign
(Nov 25, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000533838.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Feb 01, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000706108.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary fructosuria
Allele origin: germline
Invitae
Accession: SCV001113678.3
Submitted: (Jan 07, 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=ALDOB - - - -

Text-mined citations for rs149671008...

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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 Jun 23, 2021