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NM_052845.4(MMAB):c.561C>T (p.Ala187=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Aug 20, 2021)
Last evaluated:
Jul 14, 2021
Accession:
VCV000307079.7
Variation ID:
307079
Description:
single nucleotide variant
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NM_052845.4(MMAB):c.561C>T (p.Ala187=)

Allele ID
315950
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.11
Genomic location
12: 109561063 (GRCh38) GRCh38 UCSC
12: 109998868 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.109998868G>A
NC_000012.12:g.109561063G>A
NM_052845.4:c.561C>T MANE Select NP_443077.1:p.Ala187= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:109561062:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00010
Trans-Omics for Precision Medicine (TOPMed) 0.00008
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA6778829
dbSNP: rs370773720
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 4 criteria provided, conflicting interpretations Jul 14, 2021 RCV000969362.6
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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
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Vitamin B12-responsive methylmalonic acidemia type cblB
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000375742.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Oct 23, 2020)
criteria provided, single submitter
Method: clinical testing
Vitamin B12-responsive methylmalonic acidemia type cblB
Allele origin: germline
Invitae
Accession: SCV001116875.3
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Jul 14, 2021)
criteria provided, single submitter
Method: clinical testing
Vitamin B12-responsive methylmalonic acidemia type cblB
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001805870.1
Submitted: (Aug 20, 2021)
Evidence details
Uncertain significance
(Apr 10, 2020)
no assertion criteria provided
Method: clinical testing
Methylmalonic aciduria cblB type
Allele origin: germline
Natera, Inc.
Accession: SCV001455422.1
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.

Text-mined citations for rs370773720...

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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 Aug 25, 2021