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NM_052845.4(MMAB):c.540G>A (p.Ser180=)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 18, 2020
Accession:
VCV000794275.3
Variation ID:
794275
Description:
single nucleotide variant
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NM_052845.4(MMAB):c.540G>A (p.Ser180=)

Allele ID
784262
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.11
Genomic location
12: 109561084 (GRCh38) GRCh38 UCSC
12: 109998889 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.109998889C>T
NC_000012.12:g.109561084C>T
NG_007096.1:g.17414G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:109561083:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Exome Aggregation Consortium (ExAC) 0.00003
Links
dbSNP: rs754311573
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 Jul 18, 2020 RCV000977517.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MMAB - - GRCh38
GRCh37
319 355

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jul 18, 2020)
criteria provided, single submitter
Method: clinical testing
Vitamin B12-responsive methylmalonic acidemia type cblB
Allele origin: germline
Invitae
Accession: SCV001125434.3
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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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 rs754311573...

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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 08, 2021