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NM_018834.6(MATR3):c.1598G>A (p.Ser533Asn)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 29, 2018)
Last evaluated:
Jan 31, 2018
Accession:
VCV000578420.1
Variation ID:
578420
Description:
single nucleotide variant
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NM_018834.6(MATR3):c.1598G>A (p.Ser533Asn)

Allele ID
562858
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q31.2
Genomic location
5: 139319497 (GRCh38) GRCh38 UCSC
5: 138655186 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.139319497G>A
NC_000005.9:g.138655186G>A
NG_012846.1:g.50395G>A
... more HGVS
Protein change
S533N, S195N, S245N
Other names
-
Canonical SPDI
NC_000005.10:139319496:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1033118784
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jan 31, 2018 RCV000701422.1
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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
Uncertain significance
(Jan 31, 2018)
criteria provided, single submitter
Method: clinical testing
Amyotrophic lateral sclerosis 21
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV000830223.1
Submitted: (Aug 29, 2018)
Publications:
PubMed (1)
PubMed: 28492532
Comment:
This sequence change replaces serine with asparagine at codon 533 of the MATR3 protein (p.Ser533Asn). The serine residue is highly conserved and there is a … (more)

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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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs1033118784...

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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 Dec 04, 2021