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NM_001042517.2(DIAPH3):c.2317T>C (p.Phe773Leu)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 23, 2021)
Last evaluated:
Dec 31, 2019
Accession:
VCV000508708.5
Variation ID:
508708
Description:
single nucleotide variant
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NM_001042517.2(DIAPH3):c.2317T>C (p.Phe773Leu)

Allele ID
504580
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q21.2
Genomic location
13: 59911785 (GRCh38) GRCh38 UCSC
13: 60485919 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.60485919A>G
NC_000013.11:g.59911785A>G
NG_032693.2:g.257201T>C
... more HGVS
Protein change
F773L, F510L, F703L, F762L, F727L
Other names
-
Canonical SPDI
NC_000013.11:59911784:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00180 (G)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00444
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00479
1000 Genomes Project 0.00180
Trans-Omics for Precision Medicine (TOPMed) 0.00398
Exome Aggregation Consortium (ExAC) 0.00372
The Genome Aggregation Database (gnomAD), exomes 0.00403
The Genome Aggregation Database (gnomAD) 0.00443
The Genome Aggregation Database (gnomAD) 0.00471
Links
ClinGen: CA6996413
dbSNP: rs35579086
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 3 criteria provided, multiple submitters, no conflicts Dec 31, 2019 RCV000963712.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DIAPH3 - - GRCh38
GRCh37
177 252

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Dec 29, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001143736.1
Submitted: (Sep 25, 2019)
Evidence details
Publications
PubMed (1)
Likely benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001110883.2
Submitted: (Jan 29, 2020)
Evidence details
Benign
(Dec 26, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000718129.2
Submitted: (Sep 23, 2021)
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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Title Author Journal Year Link
Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosis. Daoud H Archives of neurology 2011 PMID: 21220648

Text-mined citations for rs35579086...

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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 Nov 27, 2021