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NM_005934.4(MLLT1):c.1418G>A (p.Arg473Gln) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 10, 2016
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:
RCV000491445.1

Allele description [Variation Report for NM_005934.4(MLLT1):c.1418G>A (p.Arg473Gln)]

NM_005934.4(MLLT1):c.1418G>A (p.Arg473Gln)

Gene:
MLLT1:MLLT1 super elongation complex subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_005934.4(MLLT1):c.1418G>A (p.Arg473Gln)
HGVS:
  • NC_000019.10:g.6213787C>T
  • NM_005934.4:c.1418G>AMANE SELECT
  • NP_005925.2:p.Arg473Gln
  • NC_000019.9:g.6213798C>T
  • NM_005934.3:c.1418G>A
Protein change:
R473Q
Links:
dbSNP: rs749203329
NCBI 1000 Genomes Browser:
rs749203329
Molecular consequence:
  • NM_005934.4:c.1418G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypertelorism
Identifiers:
MedGen: C0020534; OMIM: 145400; Human Phenotype Ontology: HP:0000316
Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Cerebral atrophy
Identifiers:
MedGen: C0235946; Human Phenotype Ontology: HP:0002059
Name:
Short nose
Synonyms:
Nasal hypoplasia
Identifiers:
MedGen: C1854114; Human Phenotype Ontology: HP:0003196
Name:
Abnormal cortical gyration
Identifiers:
MedGen: C1856019; Human Phenotype Ontology: HP:0002536
Name:
Infantile spasms
Synonyms:
Infantile spasm
Identifiers:
MedGen: C3887898; Human Phenotype Ontology: HP:0012469
Name:
Hypotonia
Synonyms:
Muscular hypotonia; poor muscle tone
Identifiers:
MedGen: C0026827; Human Phenotype Ontology: HP:0001252

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000282210Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine - The combination of WES, CNV-derived from WES, paralog studies, and GeneMatcher provide potential molecular diagnosis in a cohort from Saudi Arabia
no assertion criteria provided
Likely pathogenic
(Jan 10, 2016) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot providednot providednoresearch

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine - The combination of WES, CNV-derived from WES, paralog studies, and GeneMatcher provide potential molecular diagnosis in a cohort from Saudi Arabia, SCV000282210.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednoresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024