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NM_052845.4(MMAB):c.378G>A (p.Ser126=)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
May 13, 2020
Accession:
VCV000991633.2
Variation ID:
991633
Description:
single nucleotide variant
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NM_052845.4(MMAB):c.378G>A (p.Ser126=)

Allele ID
979273
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.11
Genomic location
12: 109561823 (GRCh38) GRCh38 UCSC
12: 109999628 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.109999628C>T
NC_000012.12:g.109561823C>T
NM_052845.4:c.378G>A MANE Select NP_443077.1:p.Ser126= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:109561822:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, single submitter May 13, 2020 RCV001279876.2
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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
(May 13, 2020)
criteria provided, single submitter
Method: clinical testing
Vitamin B12-responsive methylmalonic acidemia type cblB
Allele origin: germline
Invitae
Accession: SCV001707723.1
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Aug 14, 2020)
no assertion criteria provided
Method: clinical testing
Methylmalonic aciduria cblB type
Allele origin: germline
Natera, Inc.
Accession: SCV001467012.1
Submitted: (Dec 28, 2020)
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.

Record last updated Aug 27, 2021