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NM_012062.5(DNM1L):c.436G>A (p.Asp146Asn) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 26, 2020
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:
RCV000443148.2

Allele description [Variation Report for NM_012062.5(DNM1L):c.436G>A (p.Asp146Asn)]

NM_012062.5(DNM1L):c.436G>A (p.Asp146Asn)

Gene:
DNM1L:dynamin 1 like [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p11.21
Genomic location:
Preferred name:
NM_012062.5(DNM1L):c.436G>A (p.Asp146Asn)
HGVS:
  • NC_000012.12:g.32710995G>A
  • NG_012219.1:g.36793G>A
  • NM_001278463.2:c.436G>A
  • NM_001278464.2:c.475G>A
  • NM_001278465.2:c.475G>A
  • NM_001278466.2:c.131+3582G>A
  • NM_001330380.2:c.475G>A
  • NM_005690.5:c.436G>A
  • NM_012062.5:c.436G>AMANE SELECT
  • NM_012063.4:c.436G>A
  • NP_001265392.1:p.Asp146Asn
  • NP_001265393.1:p.Asp159Asn
  • NP_001265394.1:p.Asp159Asn
  • NP_001317309.1:p.Asp159Asn
  • NP_005681.2:p.Asp146Asn
  • NP_036192.2:p.Asp146Asn
  • NP_036193.2:p.Asp146Asn
  • NC_000012.11:g.32863929G>A
  • NM_012062.3:c.436G>A
Protein change:
D146N
Links:
dbSNP: rs1057523861
NCBI 1000 Genomes Browser:
rs1057523861
Molecular consequence:
  • NM_001278466.2:c.131+3582G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001278463.2:c.436G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278464.2:c.475G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278465.2:c.475G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330380.2:c.475G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005690.5:c.436G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012062.5:c.436G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012063.4:c.436G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000533580GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Pathogenic
(Jun 26, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000533580.5

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

Description

Published functional studies demonstrate that this variant has a damaging effect by causing mitochondrial network hyperfusion, reduced mitochondrial turnover, and elongated peroxisomes through a dominant negative mechanism (Longo et al., 2020); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31868880)

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

Last Updated: Mar 4, 2023