NM_182961.4(SYNE1):c.11097C>G (p.Phe3699Leu) AND Ependymoma

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 29, 2017
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:: RCV000577855.1

Allele description [Variation Report for NM_182961.4(SYNE1):c.11097C>G (p.Phe3699Leu)]

NM_182961.4(SYNE1):c.11097C>G (p.Phe3699Leu)

Gene:

SYNE1:spectrin repeat containing nuclear envelope protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q25.2

Genomic location:

Preferred name:

NM_182961.4(SYNE1):c.11097C>G (p.Phe3699Leu)

HGVS:

NC_000006.12:g.152353419G>C
NG_012855.2:g.288981C>G
NM_033071.5:c.11052C>G
NM_182961.4:c.11097C>GMANE SELECT
NP_149062.2:p.Phe3684Leu
NP_892006.3:p.Phe3699Leu
LRG_427t1:c.11097C>G
LRG_427:g.288981C>G
LRG_427p1:p.Phe3699Leu
NC_000006.11:g.152674554G>C

Protein change:

F3684L

Links:

dbSNP: rs1554520414

NCBI 1000 Genomes Browser:

rs1554520414

Molecular consequence:

NM_033071.5:c.11052C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_182961.4:c.11097C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Ependymoma
Synonyms:: Ependymoma, familial; Clear cell ependymoma (histologic variant); Papillary ependymoma (histologic variant); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0016698; MeSH: D004806; MedGen: C0014474; Human Phenotype Ontology: HP:0002888

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000678462	McDonnell Genome Institute, Washington University in St. Louis	no assertion criteria provided	Uncertain significance (Dec 29, 2017)	somatic	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000678462

McDonnell Genome Institute, Washington University in St. Louis

no assertion criteria provided

Uncertain significance
(Dec 29, 2017)

somatic

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From McDonnell Genome Institute, Washington University in St. Louis, SCV000678462.1

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

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

Last Updated: Apr 23, 2022

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