NM_001048166.1(STIL):c.1136C>T (p.Ser379Phe) AND not provided

Germline classification:: Likely benign (4 submissions)
Last evaluated:: Jan 12, 2024
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:: RCV000887897.24

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:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001031488	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Jan 12, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001474801	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Likely benign (Dec 30, 2019)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 26548919, 23772360, 26467025
SCV001831895	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Jan 21, 2021)	germline	clinical testing	Citation Link,
SCV004032949	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Sep 1, 2023)	germline	clinical testing	Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	11	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Genetic causes of MCPH in consanguineous Pakistani families.

Kraemer N, Picker-Minh S, Abbasi AA, Fröhler S, Ninnemann O, Khan MN, Ali G, Chen W, Kaindl AM.

Clin Genet. 2016 Jun;89(6):744-5. doi: 10.1111/cge.12685. Epub 2015 Nov 8. No abstract available.

PubMed [citation]

PMID:: 26548919

See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001031488.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Athena Diagnostics, SCV001474801.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From GeneDx, SCV001831895.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is associated with the following publications: (PMID: 26548919, 23772360)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV004032949.11

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	11	not provided	not provided	clinical testing	not provided

Description

STIL: BP4, BP5

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		11	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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