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NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) AND Abnormal brain morphology

Germline classification:
no classifications from unflagged records (1 submission)
Last evaluated:
Oct 26, 2023
Review status:
no classifications from unflagged records
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:
RCV000454157.4

Allele description [Variation Report for NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe)]

NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe)

Gene:
STIL:STIL centriolar assembly protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p33
Genomic location:
Preferred name:
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe)
HGVS:
  • NC_000001.11:g.47281003C>G
  • NG_012126.1:g.38145G>C
  • NM_001048166.1:c.1455G>CMANE SELECT
  • NM_001282936.1:c.1455G>C
  • NM_001282937.1:c.1455G>C
  • NM_001282938.1:c.1314G>C
  • NM_001282939.1:c.1314G>C
  • NM_003035.2:c.1455G>C
  • NP_001041631.1:p.Leu485Phe
  • NP_001269865.1:p.Leu485Phe
  • NP_001269866.1:p.Leu485Phe
  • NP_001269867.1:p.Leu438Phe
  • NP_001269868.1:p.Leu438Phe
  • NP_003026.2:p.Leu485Phe
  • NC_000001.10:g.47746675C>G
Protein change:
L438F
Links:
dbSNP: rs139912214
NCBI 1000 Genomes Browser:
rs139912214
Molecular consequence:
  • NM_001048166.1:c.1455G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282936.1:c.1455G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282937.1:c.1455G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282938.1:c.1314G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282939.1:c.1314G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003035.2:c.1455G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Abnormal brain morphology
Synonyms:
Abnormality of brain morphology
Identifiers:
MedGen: C4021085; Human Phenotype Ontology: HP:0012443

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Assertion and evidence details

Help
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Karaca E, Harel T, Pehlivan D, Jhangiani SN, Gambin T, Coban Akdemir Z, Gonzaga-Jauregui C, Erdin S, Bayram Y, Campbell IM, Hunter JV, Atik MM, Van Esch H, Yuan B, Wiszniewski W, Isikay S, Yesil G, Yuregir OO, Tug Bozdogan S, Aslan H, Aydin H, Tos T, et al.

Neuron. 2015 Nov 4;88(3):499-513. doi: 10.1016/j.neuron.2015.09.048.

PubMed [citation]
PMID:
26539891
PMCID:
PMC4824012

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000537981.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providedBloodnot providednot providednot providednot providednot provided

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000537981Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
flagged submission
Reason: Outlier claim with insufficient supporting evidence
Notes: None

(Karaca et al. (Neuron 2015))		Likely pathogenicinheritedresearch

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

Last Updated: Aug 4, 2024