NM_004408.4(DNM1):c.709C>T (p.Arg237Trp) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Sep 10, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000263789.24

Allele description

NM_004408.4(DNM1):c.709C>T (p.Arg237Trp)

Gene:

DNM1:dynamin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_004408.4(DNM1):c.709C>T (p.Arg237Trp)

HGVS:

NC_000009.12:g.128220201C>T
NG_029726.1:g.21818C>T
NM_001005336.3:c.709C>T
NM_001288737.2:c.709C>T
NM_001288738.2:c.709C>T
NM_001288739.2:c.709C>T
NM_001374269.1:c.709C>T
NM_004408.4:c.709C>TMANE SELECT
NP_001005336.1:p.Arg237Trp
NP_001275666.1:p.Arg237Trp
NP_001275667.1:p.Arg237Trp
NP_001275668.1:p.Arg237Trp
NP_001361198.1:p.Arg237Trp
NP_004399.2:p.Arg237Trp
NC_000009.11:g.130982480C>T
NM_004408.2:c.709C>T
NM_004408.3:c.709C>T
Q05193:p.Arg237Trp

Nucleotide change:

130982480C-T

Protein change:

R237W

Links:

UniProtKB: Q05193#VAR_073712; OMIM: 602377.0004; dbSNP: rs760270633

NCBI 1000 Genomes Browser:

rs760270633

Molecular consequence:

NM_001005336.3:c.709C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001288737.2:c.709C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001288738.2:c.709C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001288739.2:c.709C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001374269.1:c.709C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_004408.4:c.709C>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
SCV000330044	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Sep 10, 2023)	germline	clinical testing	Citation Link,
SCV001248837	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Jul 1, 2018)	germline	clinical testing	Citation Link,
SCV001334362	Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 15, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000330044

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Sep 10, 2023)

germline

clinical testing

Citation Link,

SCV001248837

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Pathogenic
(Jul 1, 2018)

germline

clinical testing

Citation Link,

SCV001334362

Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 15, 2019)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	4	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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 GeneDx, SCV000330044.9

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

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27476654, 29314763, 32827528, 25262651, 26611353, 25533962, 28667181, 29186148, 33726816, 31785789, 33004838, 31440721)

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV001248837.22

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	clinical testing	not provided

#	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		4	not provided	not provided	not provided

From Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes, SCV001334362.1

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

#	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: Jun 17, 2024

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