NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Oct 13, 2022
Review status:: criteria provided, conflicting classifications

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001507414.9

Allele description [Variation Report for NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr)]

NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr)

Gene:

DNM2:dynamin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr)

HGVS:

NC_000019.10:g.10829156C>T
NG_008792.1:g.116078C>T
NM_001005360.3:c.2179C>T
NM_001005361.3:c.2179C>TMANE SELECT
NM_001005362.3:c.2167C>T
NM_001190716.2:c.2179C>T
NM_004945.4:c.2167C>T
NP_001005360.1:p.His727Tyr
NP_001005360.1:p.His727Tyr
NP_001005361.1:p.His727Tyr
NP_001005362.1:p.His723Tyr
NP_001177645.1:p.His727Tyr
NP_004936.2:p.His723Tyr
LRG_238t1:c.2179C>T
LRG_238:g.116078C>T
LRG_238p1:p.His727Tyr
NC_000019.9:g.10939832C>T
NM_001005360.2:c.2179C>T
p.His727Tyr

Protein change:

H723Y

Links:

dbSNP: rs142963320

NCBI 1000 Genomes Browser:

rs142963320

Molecular consequence:

NM_001005360.3:c.2179C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001005361.3:c.2179C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001005362.3:c.2167C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001190716.2:c.2179C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_004945.4:c.2167C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001712955	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 13, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 27572814, 25741868
SCV001838890	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Feb 18, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001712955

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 13, 2022)

germline

clinical testing

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

SCV001838890

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Feb 18, 2021)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	3	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients.

Kuperberg M, Lev D, Blumkin L, Zerem A, Ginsberg M, Linder I, Carmi N, Kivity S, Lerman-Sagie T, Leshinsky-Silver E.

J Child Neurol. 2016 Dec;31(14):1534-1539. Epub 2016 Aug 29.

PubMed [citation]

PMID:: 27572814

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV001712955.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		3	not provided	not provided	not provided

From GeneDx, SCV001838890.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is associated with the following publications: (PMID: 27572814)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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