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NM_004408.4(DNM1):c.1072G>T (p.Gly358Trp) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 23, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000484549.1

Allele description [Variation Report for NM_004408.4(DNM1):c.1072G>T (p.Gly358Trp)]

NM_004408.4(DNM1):c.1072G>T (p.Gly358Trp)

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.1072G>T (p.Gly358Trp)
HGVS:
  • NC_000009.12:g.128222540G>T
  • NG_029726.1:g.24157G>T
  • NM_001005336.3:c.1072G>T
  • NM_001288737.2:c.1072G>T
  • NM_001288738.2:c.1072G>T
  • NM_001288739.2:c.1072G>T
  • NM_004408.4:c.1072G>TMANE SELECT
  • NP_001005336.1:p.Gly358Trp
  • NP_001275666.1:p.Gly358Trp
  • NP_001275667.1:p.Gly358Trp
  • NP_001275668.1:p.Gly358Trp
  • NP_004399.2:p.Gly358Trp
  • NC_000009.11:g.130984819G>T
  • NM_004408.3:c.1072G>T
Protein change:
G358W
Links:
dbSNP: rs1064794828
NCBI 1000 Genomes Browser:
rs1064794828
Molecular consequence:
  • NM_001005336.3:c.1072G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001288737.2:c.1072G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001288738.2:c.1072G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001288739.2:c.1072G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004408.4:c.1072G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000570034GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Nov 23, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000570034.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The G358W variant in the DNM1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G358W variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G358W variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret G358W as a likely pathogenic variant

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022