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NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 20, 2013
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:
RCV000210579.6

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]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000262963Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Likely benign
(Mar 20, 2013) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000262963.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024