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NM_004408.4(DNM1):c.434_436del (p.Val145del) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 20, 2023
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:
RCV002717557.3

Allele description [Variation Report for NM_004408.4(DNM1):c.434_436del (p.Val145del)]

NM_004408.4(DNM1):c.434_436del (p.Val145del)

Genes:
LOC113839516:Sharpr-MPRA regulatory region 8497 [Gene]
DNM1:dynamin 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_004408.4(DNM1):c.434_436del (p.Val145del)
HGVS:
  • NC_000009.12:g.128219097_128219099del
  • NG_029726.1:g.20714_20716del
  • NG_063133.1:g.448_450del
  • NG_063133.2:g.1374_1376del
  • NM_001005336.3:c.434_436del
  • NM_001288737.2:c.434_436del
  • NM_001288738.2:c.434_436del
  • NM_001288739.2:c.434_436del
  • NM_001374269.1:c.434_436del
  • NM_004408.4:c.434_436delMANE SELECT
  • NP_001005336.1:p.Val145del
  • NP_001275666.1:p.Val145del
  • NP_001275667.1:p.Val145del
  • NP_001275668.1:p.Val145del
  • NP_001361198.1:p.Val145del
  • NP_004399.2:p.Val145del
  • NC_000009.11:g.130981376_130981378del
  • NM_004408.2:c.434_436delTGG
Protein change:
V145del
Molecular consequence:
  • NM_001005336.3:c.434_436del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001288737.2:c.434_436del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001288738.2:c.434_436del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001288739.2:c.434_436del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001374269.1:c.434_436del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_004408.4:c.434_436del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003564512Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 20, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003564512.3

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

Description

The c.434_436delTGG (p.V145del) alteration, located in coding exon 4 of the DNM1 gene, results from an in-frame deletion of 3 nucleotides at positions c.434 to c.436. This results in the deletion of a valine residue at codon 145. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. This alteration is predicted to be deleterious by in silico analysis (Choi, 2012). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024