U.S. flag

An official website of the United States government

NM_001048166.1(STIL):c.1136C>T (p.Ser379Phe) AND Microcephaly 7, primary, autosomal recessive

Germline classification:
Uncertain significance (4 submissions)
Last evaluated:
May 23, 2017
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000147679.12

Allele description [Variation Report for NM_001048166.1(STIL):c.1136C>T (p.Ser379Phe)]

NM_001048166.1(STIL):c.1136C>T (p.Ser379Phe)

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.1136C>T (p.Ser379Phe)
HGVS:
  • NC_000001.11:g.47282457G>A
  • NG_012126.1:g.36691C>T
  • NM_001048166.1:c.1136C>TMANE SELECT
  • NM_001282936.1:c.1136C>T
  • NM_001282937.1:c.1136C>T
  • NM_001282938.1:c.995C>T
  • NM_001282939.1:c.995C>T
  • NM_003035.2:c.1136C>T
  • NP_001041631.1:p.Ser379Phe
  • NP_001269865.1:p.Ser379Phe
  • NP_001269866.1:p.Ser379Phe
  • NP_001269867.1:p.Ser332Phe
  • NP_001269868.1:p.Ser332Phe
  • NP_003026.2:p.Ser379Phe
  • NC_000001.10:g.47748129G>A
Protein change:
S332F
Links:
dbSNP: rs149185431
NCBI 1000 Genomes Browser:
rs149185431
Molecular consequence:
  • NM_001048166.1:c.1136C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282936.1:c.1136C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282937.1:c.1136C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282938.1:c.995C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282939.1:c.995C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003035.2:c.1136C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Microcephaly 7, primary, autosomal recessive
Identifiers:
MONDO: MONDO:0012989; MedGen: C2675187; Orphanet: 2512; OMIM: 612703

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000195130Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2007)		Uncertain significance
(Dec 28, 2012) 		germlineclinical testing

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

SCV000611524Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(May 23, 2017) 		unknownclinical testing

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

SCV001254501Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Uncertain significance
(Apr 27, 2017) 		germlineclinical testing

Citation Link,

SCV003931228GenomeConnect - Brain Gene Registry
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot provided1not providedclinical testing, phenotyping only
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]
PMID:
18414213

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000195130.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Fulgent Genetics, Fulgent Genetics, SCV000611524.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Illumina Laboratory Services, Illumina, SCV001254501.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From GenomeConnect - Brain Gene Registry, SCV003931228.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedphenotyping onlynot provided

Description

Variant classified as Uncertain significance and reported on 12-06-2016 by Baylor Medical Genetics Laboratories. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024