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NM_018834.6(MATR3):c.2271T>C (p.Asp757=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 20, 2018
Accession:
VCV000723148.4
Variation ID:
723148
Description:
single nucleotide variant
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NM_018834.6(MATR3):c.2271T>C (p.Asp757=)

Allele ID
734873
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q31.2
Genomic location
5: 139325562 (GRCh38) GRCh38 UCSC
5: 138661251 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.139325562T>C
NG_012846.1:g.56460T>C
NM_001194954.2:c.2271T>C NP_001181883.1:p.Asp757= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:139325561:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00001
Exome Aggregation Consortium (ExAC) 0.00009
The Genome Aggregation Database (gnomAD), exomes 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
dbSNP: rs753870064
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Mar 7, 2018 RCV001156425.3
Likely benign 1 criteria provided, single submitter Mar 20, 2018 RCV000896870.1
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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

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Likely benign
(Mar 20, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001040983.1
Submitted: (Mar 14, 2019)
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Amyotrophic lateral sclerosis 21
Affected status: unknown
Allele origin: germline
Illumina Laboratory Services,Illumina
Accession: SCV001317922.1
Submitted: (Feb 20, 2020)
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
(Mar 07, 2018)
criteria provided, single submitter
Method: clinical testing
Amyotrophic lateral sclerosis 21
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001660649.1
Submitted: (Jan 07, 2021)

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 rs753870064...

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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 Jan 08, 2022