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NM_004991.4(MECOM):c.1678C>T (p.Gln560Ter)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Sep 13, 2019)
Accession:
VCV000812896.1
Variation ID:
812896
Description:
single nucleotide variant
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NM_004991.4(MECOM):c.1678C>T (p.Gln560Ter)

Allele ID
801073
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q26.2
Genomic location
3: 169116194 (GRCh38) GRCh38 UCSC
3: 168833982 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.168833982G>A
NC_000003.12:g.169116194G>A
NG_028279.1:g.552582C>T
... more HGVS
Protein change
Q560*, Q373*, Q372*, Q437*
Other names
-
Canonical SPDI
NC_000003.12:169116193:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1577005203
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided - RCV001003802.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MECOM - - GRCh38
GRCh37
33 58

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(-)
no assertion criteria provided
Method: research
Thrombocytopenia
Allele origin: unknown
NIHR Bioresource Rare Diseases, University of Cambridge
Accession: SCV001162246.1
Submitted: (Sep 13, 2019)
Evidence details
Publications
PubMed (1)

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
Whole-genome sequencing of patients with rare diseases in a national health system. Turro E Nature 2020 PMID: 32581362

Text-mined citations for rs1577005203...

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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 Sep 23, 2021