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NM_001698.2(AUH):c.304T>A (p.Ser102Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 2, 2018)
Last evaluated:
Sep 28, 2017
Accession:
VCV000529799.1
Variation ID:
529799
Description:
single nucleotide variant
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NM_001698.2(AUH):c.304T>A (p.Ser102Thr)

Allele ID
524908
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q22.31
Genomic location
9: 91356114 (GRCh38) GRCh38 UCSC
9: 94118396 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.94118396A>T
NC_000009.12:g.91356114A>T
NM_001306190.1:c.304T>A NP_001293119.1:p.Ser102Thr missense
... more HGVS
Protein change
S102T
Other names
-
Canonical SPDI
NC_000009.12:91356113:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1554721818
ClinGen: CA373836076
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Sep 28, 2017 RCV000635281.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
AUH - - GRCh38
GRCh37
115 143

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 28, 2017)
criteria provided, single submitter
Method: clinical testing
3-Methylglutaconic aciduria type 1
Allele origin: germline
Invitae
Accession: SCV000756676.1
Submitted: (Apr 02, 2018)
Evidence details
Comment:
This sequence change replaces serine with threonine at codon 102 of the AUH protein (p.Ser102Thr). The serine residue is moderately conserved and there is a … (more)

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 rs1554721818...

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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 Feb 12, 2021