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NM_001164664.2(MAST4):c.4412C>T (p.Thr1471Ile) AND Infantile spasms

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 15, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV002508179.1

Allele description [Variation Report for NM_001164664.2(MAST4):c.4412C>T (p.Thr1471Ile)]

NM_001164664.2(MAST4):c.4412C>T (p.Thr1471Ile)

Gene:
MAST4:microtubule associated serine/threonine kinase family member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q12.3
Genomic location:
Preferred name:
NM_001164664.2(MAST4):c.4412C>T (p.Thr1471Ile)
HGVS:
  • NC_000005.10:g.67163591C>T
  • NG_034036.1:g.572244C>T
  • NM_001164664.2:c.4412C>TMANE SELECT
  • NM_001290226.2:c.3794C>T
  • NM_001290227.2:c.3629C>T
  • NM_001297651.2:c.3830C>T
  • NM_001393524.1:c.4421C>T
  • NM_001393525.1:c.4211C>T
  • NM_001393526.1:c.3644C>T
  • NM_001393527.1:c.3629C>T
  • NM_001393528.1:c.3608C>T
  • NM_015183.3:c.3845C>T
  • NP_001158136.1:p.Thr1471Ile
  • NP_001277155.1:p.Thr1265Ile
  • NP_001277156.1:p.Thr1210Ile
  • NP_001284580.1:p.Thr1277Ile
  • NP_001380453.1:p.Thr1474Ile
  • NP_001380454.1:p.Thr1404Ile
  • NP_001380455.1:p.Thr1215Ile
  • NP_001380456.1:p.Thr1210Ile
  • NP_001380457.1:p.Thr1203Ile
  • NP_055998.1:p.Thr1282Ile
  • NC_000005.9:g.66459419C>T
Protein change:
T1203I
Molecular consequence:
  • NM_001164664.2:c.4412C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001290226.2:c.3794C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001290227.2:c.3629C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001297651.2:c.3830C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001393524.1:c.4421C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001393525.1:c.4211C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001393526.1:c.3644C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001393527.1:c.3629C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001393528.1:c.3608C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015183.3:c.3845C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Infantile spasms
Synonyms:
Infantile spasm
Identifiers:
MedGen: C3887898; Human Phenotype Ontology: HP:0012469

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002817421National Health Commission Key Laboratory of Birth Defects Research, Maternal and Child Health Hospital of Hunan
no assertion criteria provided
Uncertain significance
(Dec 15, 2022) 		de novoclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From National Health Commission Key Laboratory of Birth Defects Research, Maternal and Child Health Hospital of Hunan, SCV002817421.1

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

Last Updated: Jan 7, 2023