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_018834.6(MATR3):c.2538A>G (p.Glu846=)

Help
Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 23, 2020
Accession:
VCV000772662.3
Variation ID:
772662
Description:
single nucleotide variant
Help

NM_018834.6(MATR3):c.2538A>G (p.Glu846=)

Allele ID
698821
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q31.2
Genomic location
5: 139329389 (GRCh38) GRCh38 UCSC
5: 138665078 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.9:g.138665078A>G
NC_000005.10:g.139329389A>G
NG_012846.1:g.60287A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:139329388:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Exome Aggregation Consortium (ExAC) 0.00003
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Links
dbSNP: rs747688305
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Aug 23, 2020 RCV000952272.3
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MATR3 - - GRCh38
GRCh37
217 249

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Likely benign
(Aug 23, 2020)
criteria provided, single submitter
Method: clinical testing
Amyotrophic lateral sclerosis 21
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001098763.3
Submitted: (Jan 07, 2021)

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 rs747688305...

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 Dec 04, 2021