NM_000093.5(COL5A1):c.4609-279_4609-278insCCC AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 16, 2018
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:: RCV000832828.1

Allele description [Variation Report for NM_000093.5(COL5A1):c.4609-279_4609-278insCCC]

NM_000093.5(COL5A1):c.4609-279_4609-278insCCC

Genes:

COL5A1:collagen type V alpha 1 chain [Gene - OMIM - HGNC]
LOC101448202:uncharacterized LOC101448202 [Gene]

Variant type:

Insertion

Cytogenetic location:

9q34.3

Genomic location:

Preferred name:

NM_000093.5(COL5A1):c.4609-279_4609-278insCCC

HGVS:

NC_000009.12:g.134822718_134822719insCCC
NC_000009.12:g.134822719_134822720insCCC
NG_008030.1:g.185914_185915insCCC
NM_000093.5:c.4609-279_4609-278insCCCMANE SELECT
NM_001278074.1:c.4609-279_4609-278insCCC
LRG_737t2:c.4609-279_4609-278insCCC
LRG_737:g.185914_185915insCCC
NC_000009.11:g.137714565_137714566insCCC
NM_000093.3:c.4609-280_4609-279insCCC

Links:

dbSNP: rs370666409

NCBI 1000 Genomes Browser:

rs370666409

Molecular consequence:

NM_000093.5:c.4609-279_4609-278insCCC - intron variant - [Sequence Ontology: SO:0001627]
NM_001278074.1:c.4609-279_4609-278insCCC - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000974584	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely benign (Jun 16, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000974584

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely benign
(Jun 16, 2018)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000974584.1

#	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 considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	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

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine