Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_002451.4(MTAP):c.572C>T (p.Ala191Val)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 29, 2019)
Last evaluated:
Apr 27, 2019
Accession:
VCV000638349.2
Variation ID:
638349
Description:
single nucleotide variant
Help

NM_002451.4(MTAP):c.572C>T (p.Ala191Val)

Allele ID
626188
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9p21.3
Genomic location
9: 21854752 (GRCh38) GRCh38 UCSC
9: 21854751 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.21854751C>T
NC_000009.12:g.21854752C>T
NG_032650.1:g.57117C>T
NM_002451.4:c.572C>T MANE Select NP_002442.2:p.Ala191Val missense
Protein change
A191V
Other names
-
Canonical SPDI
NC_000009.12:21854751:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD), exomes 0.00012
Exome Aggregation Consortium (ExAC) 0.00015
The Genome Aggregation Database (gnomAD) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00008
Links
dbSNP: rs200708704
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Apr 27, 2019 RCV000790971.2
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MTAP Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
147 231

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 27, 2019)
criteria provided, single submitter
Method: clinical testing
Diaphyseal medullary stenosis with malignant fibrous histiocytoma
Allele origin: unknown
Genomic Research Center,Shahid Beheshti University of Medical Sciences
Accession: SCV000930229.1
Submitted: (Apr 29, 2019)
Evidence details

Functional evidence

Help
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

Help
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 rs200708704...

Help
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 Sep 07, 2021