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NM_000016.5(ACADM):c.388-12_388-10del

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 19, 2018)
Last evaluated:
Oct 2, 2015
Accession:
VCV000092264.1
Variation ID:
92264
Description:
3bp deletion
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NM_000016.5(ACADM):c.388-12_388-10del

Allele ID
98175
Variant type
Deletion
Variant length
3 bp
Cytogenetic location
1p31.1
Genomic location
1: 75734778-75734780 (GRCh38) GRCh38 UCSC
1: 76200463-76200465 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.76200464_76200466del
NC_000001.11:g.75734779_75734781del
NM_001127328.2:c.400-12_400-10del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:75734777:TTTT:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA220179
dbSNP: rs398123076
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 Oct 2, 2015 RCV000077888.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ACADM - - GRCh38
GRCh37
460 488

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 02, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000109717.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…

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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ACADM - - - -

Text-mined citations for rs398123076...

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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 Oct 30, 2020