NM_001394062.1(MACF1):c.20593C>T (p.Leu6865Phe) AND Lissencephaly 9 with complex brainstem malformation

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 24, 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:: RCV001809177.1

Allele description [Variation Report for NM_001394062.1(MACF1):c.20593C>T (p.Leu6865Phe)]

NM_001394062.1(MACF1):c.20593C>T (p.Leu6865Phe)

Gene:

MACF1:microtubule actin crosslinking factor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.3

Genomic location:

Preferred name:

NM_001394062.1(MACF1):c.20593C>T (p.Leu6865Phe)

HGVS:

NC_000001.11:g.39452330C>T
NG_050926.1:g.375914C>T
NM_001394062.1:c.20593C>TMANE SELECT
NM_012090.5:c.14416C>T
NP_001380991.1:p.Leu6865Phe
NP_036222.3:p.Leu4806Phe
NC_000001.10:g.39918002C>T

Protein change:

L4806F

Links:

dbSNP: rs2148680751

NCBI 1000 Genomes Browser:

rs2148680751

Molecular consequence:

NM_001394062.1:c.20593C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_012090.5:c.14416C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Lissencephaly 9 with complex brainstem malformation
Identifiers:: MONDO: MONDO:0032677; MedGen: C5193029; OMIM: 618325

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002059628	Centogene AG - the Rare Disease Company	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 24, 2020)	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

SCV002059628

Centogene AG - the Rare Disease Company

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 24, 2020)

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	unknown	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 Centogene AG - the Rare Disease Company, SCV002059628.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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