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NM_133171.5(ELMO2):c.963G>A (p.Arg321=)

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Dec 11, 2020)
Last evaluated:
Aug 20, 2019
Accession:
VCV000993895.1
Variation ID:
993895
Description:
single nucleotide variant
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NM_133171.5(ELMO2):c.963G>A (p.Arg321=)

Allele ID
982222
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
20q13.12
Genomic location
20: 46375338 (GRCh38) GRCh38 UCSC
20: 45003977 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000020.10:g.45003977C>T
NC_000020.11:g.46375338C>T
NM_133171.5:c.963G>A MANE Select NP_573403.1:p.Arg321= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000020.11:46375337:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Aug 20, 2019 RCV001286097.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ELMO2 - - GRCh38
GRCh37
30 40

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Aug 20, 2019)
criteria provided, single submitter
Method: clinical testing
Vascular malformation, primary intraosseous
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001472621.1
Submitted: (Dec 11, 2020)
Evidence details

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.

Record last updated Mar 14, 2021