NM_000606.3(C8G):c.318_319del (p.Val108fs) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 13, 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:: RCV000788173.2

Allele description [Variation Report for NM_000606.3(C8G):c.318_319del (p.Val108fs)]

NM_000606.3(C8G):c.318_319del (p.Val108fs)

Gene:

C8G:complement C8 gamma chain [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

9q34.3

Genomic location:

Preferred name:

NM_000606.3(C8G):c.318_319del (p.Val108fs)

HGVS:

NC_000009.12:g.136945971_136945972del
NG_029580.1:g.5726_5727del
NM_000606.3:c.318_319delMANE SELECT
NP_000597.2:p.Val108fs
LRG_1211t1:c.318_319del
LRG_1211:g.5726_5727del
LRG_1211p1:p.Val108fs
NC_000009.11:g.139840423_139840424del
NM_000606.2:c.318_319delAG

Protein change:

V108fs

Links:

dbSNP: rs770178502

NCBI 1000 Genomes Browser:

rs770178502

Molecular consequence:

NM_000606.3:c.318_319del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000927203	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Uncertain significance (Mar 13, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000927203

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Uncertain significance
(Mar 13, 2017)

germline

clinical testing

Citation Link

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

Details of each submission

From Blueprint Genetics, SCV000927203.1

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

#	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

ClinVar

Relating variation to medicine