NM_018941.4(CLN8):c.347T>C (p.Phe116Ser) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 21, 2017
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:: RCV000711265.2

Allele description [Variation Report for NM_018941.4(CLN8):c.347T>C (p.Phe116Ser)]

NM_018941.4(CLN8):c.347T>C (p.Phe116Ser)

Gene:

CLN8:CLN8 transmembrane ER and ERGIC protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p23.3

Genomic location:

Preferred name:

NM_018941.4(CLN8):c.347T>C (p.Phe116Ser)

HGVS:

NC_000008.11:g.1771401T>C
NG_008656.2:g.20624T>C
NM_018941.4:c.347T>CMANE SELECT
NP_061764.2:p.Phe116Ser
NP_061764.2:p.Phe116Ser
LRG_691t1:c.347T>C
LRG_691:g.20624T>C
LRG_691p1:p.Phe116Ser
NC_000008.10:g.1719567T>C
NM_018941.3:c.347T>C

Protein change:

F116S

Links:

dbSNP: rs1563108002

NCBI 1000 Genomes Browser:

rs1563108002

Molecular consequence:

NM_018941.4:c.347T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Mus musculus RIKEN cDNA 5133400G04 gene (5133400G04Rik), transcript variant 1, m...
Mus musculus RIKEN cDNA 5133400G04 gene (5133400G04Rik), transcript variant 1, mRNA
gi|56961628|ref|NM_027733.3|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000841599	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Uncertain significance (Dec 21, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000841599

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Uncertain significance
(Dec 21, 2017)

germline

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From Athena Diagnostics, SCV000841599.1

#	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

Last Updated: May 7, 2024

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