NM_012062.5(DNM1L):c.763_764dup (p.Lys256fs) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 12, 2018
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:: RCV000850504.1

Allele description [Variation Report for NM_012062.5(DNM1L):c.763_764dup (p.Lys256fs)]

NM_012062.5(DNM1L):c.763_764dup (p.Lys256fs)

Gene:

DNM1L:dynamin 1 like [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

12p11.21

Genomic location:

Preferred name:

NM_012062.5(DNM1L):c.763_764dup (p.Lys256fs)

HGVS:

NC_000012.12:g.32720686_32720687dup
NG_012219.1:g.46484_46485dup
NM_001278463.2:c.763_764dup
NM_001278464.2:c.802_803dup
NM_001278465.2:c.802_803dup
NM_001278466.2:c.154_155dup
NM_001330380.2:c.802_803dup
NM_005690.5:c.763_764dup
NM_012062.5:c.763_764dupMANE SELECT
NM_012063.4:c.763_764dup
NP_001265392.1:p.Lys256fs
NP_001265393.1:p.Lys269fs
NP_001265394.1:p.Lys269fs
NP_001265395.1:p.Lys53fs
NP_001317309.1:p.Lys269fs
NP_005681.2:p.Lys256fs
NP_036192.2:p.Lys256fs
NP_036193.2:p.Lys256fs
NC_000012.11:g.32873620_32873621dup
NC_000012.11:g.32873620_32873621dupAA

Protein change:

K256fs

Links:

dbSNP: rs1592631789

NCBI 1000 Genomes Browser:

rs1592631789

Molecular consequence:

NM_001278463.2:c.763_764dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001278464.2:c.802_803dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001278465.2:c.802_803dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001278466.2:c.154_155dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001330380.2:c.802_803dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_005690.5:c.763_764dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_012062.5:c.763_764dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_012063.4:c.763_764dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Optic atrophy 5 (OPA5)
Identifiers:: MONDO: MONDO:0012543; MedGen: C1853139; Orphanet: 98673; OMIM: 610708

Name:: Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
Synonyms:: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
Identifiers:: MONDO: MONDO:0013726; MedGen: C3280660; Orphanet: 330050; OMIM: 614388

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000992707	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 12, 2018)	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

SCV000992707

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 12, 2018)

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	not provided	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 Baylor Genetics, SCV000992707.1

#	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: Sep 17, 2022

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