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NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000760801.5
Variation ID:
760801
Description:
single nucleotide variant
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NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe)

Allele ID
764331
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q31.21
Genomic location
4: 145655180 (GRCh38) GRCh38 UCSC
4: 146576332 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.146576332A>T
NC_000004.12:g.145655180A>T
NG_007536.1:g.40883A>T
... more HGVS
Protein change
I335F
Other names
-
Canonical SPDI
NC_000004.12:145655179:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00016
The Genome Aggregation Database (gnomAD) 0.00010
Exome Aggregation Consortium (ExAC) 0.00018
Trans-Omics for Precision Medicine (TOPMed) 0.00019
Links
dbSNP: rs199749473
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 3 criteria provided, conflicting interpretations Dec 4, 2020 RCV000938788.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MMAA - - GRCh38
GRCh37
309 334

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Vitamin B12-responsive methylmalonic acidemia type cblA
Allele origin: germline
Invitae
Accession: SCV001084611.3
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Vitamin B12-responsive methylmalonic acidemia type cblA
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001306297.1
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)
Uncertain significance
(Apr 16, 2020)
no assertion criteria provided
Method: clinical testing
Methylmalonic aciduria cblA type
Allele origin: germline
Natera, Inc.
Accession: SCV001457025.1
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 rs199749473...

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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