NM_001042517.2(DIAPH3):c.2317T>C (p.Phe773Leu) AND not provided

Clinical significance:Benign/Likely benign (Last evaluated: Dec 31, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000963712.4

Allele description [Variation Report for NM_001042517.2(DIAPH3):c.2317T>C (p.Phe773Leu)]

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

Gene:
DIAPH3:diaphanous related formin 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q21.2
Genomic location:
Preferred name:
NM_001042517.2(DIAPH3):c.2317T>C (p.Phe773Leu)
HGVS:
  • NC_000013.11:g.59911785A>G
  • NG_032693.2:g.257201T>C
  • NM_001042517.2:c.2317T>CMANE SELECT
  • NM_001258366.2:c.2284T>C
  • NM_001258367.2:c.2179T>C
  • NM_001258368.2:c.2107T>C
  • NM_001258369.2:c.2317T>C
  • NM_001258370.2:c.1528T>C
  • NM_030932.4:c.1528T>C
  • NP_001035982.1:p.Phe773Leu
  • NP_001245295.1:p.Phe762Leu
  • NP_001245296.1:p.Phe727Leu
  • NP_001245297.1:p.Phe703Leu
  • NP_001245298.1:p.Phe773Leu
  • NP_001245299.1:p.Phe510Leu
  • NP_112194.2:p.Phe510Leu
  • NC_000013.10:g.60485919A>G
  • NM_001042517.1:c.2317T>C
Protein change:
F510L
Links:
dbSNP: rs35579086
NCBI 1000 Genomes Browser:
rs35579086
Molecular consequence:
  • NM_001042517.2:c.2317T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258366.2:c.2284T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258367.2:c.2179T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258368.2:c.2107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258369.2:c.2317T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258370.2:c.1528T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_030932.4:c.1528T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000718129GeneDxcriteria provided, single submitter
Benign
(Dec 26, 2018)
germlineclinical testing

Citation Link,

SCV001110883Invitaecriteria provided, single submitter
Likely benign
(Dec 31, 2019)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001143736Athena Diagnostics Inccriteria provided, single submitter
Benign
(Dec 29, 2018)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosis.

Daoud H, Valdmanis PN, Gros-Louis F, Belzil V, Spiegelman D, Henrion E, Diallo O, Desjarlais A, Gauthier J, Camu W, Dion PA, Rouleau GA.

Arch Neurol. 2011 May;68(5):587-93. doi: 10.1001/archneurol.2010.351. Epub 2011 Jan 10.

PubMed [citation]
PMID:
21220648
See all PubMed Citations (3)

Details of each submission

From GeneDx, SCV000718129.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Invitae, SCV001110883.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Athena Diagnostics Inc, SCV001143736.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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