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NM_014975.3(MAST1):c.262C>T (p.Arg88Trp) AND Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 1, 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:
RCV003448457.1

Allele description [Variation Report for NM_014975.3(MAST1):c.262C>T (p.Arg88Trp)]

NM_014975.3(MAST1):c.262C>T (p.Arg88Trp)

Gene:
MAST1:microtubule associated serine/threonine kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.13
Genomic location:
Preferred name:
NM_014975.3(MAST1):c.262C>T (p.Arg88Trp)
HGVS:
  • NC_000019.10:g.12843542C>T
  • NG_054729.1:g.14612C>T
  • NM_014975.3:c.262C>TMANE SELECT
  • NP_055790.1:p.Arg88Trp
  • NC_000019.9:g.12954356C>T
  • NM_014975.2:c.262C>T
Protein change:
R88W
Molecular consequence:
  • NM_014975.3:c.262C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
Identifiers:
MONDO: MONDO:0032648; MedGen: C4748927; OMIM: 618273

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004176144New York Genome Center
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Sep 1, 2023) 		inheritedclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center, SCV004176144.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 17, 2023