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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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002059628Centogene AG - the Rare Disease Company
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 24, 2020) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023