NM_000493.4(COL10A1):c.*6_*7insCCC AND Metaphyseal chondrodysplasia

NM_000493.4(COL10A1):c.6_7insCCC AND Metaphyseal chondrodysplasia

Germline classification:: Benign (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000334905.5

Allele description [Variation Report for NM_000493.4(COL10A1):c.6_7insCCC]

NM_000493.4(COL10A1):c.6_7insCCC

Genes:

NT5DC1:5'-nucleotidase domain containing 1 [Gene - HGNC]
COL10A1:collagen type X alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

6q22.1

Genomic location:

Preferred name:

NM_000493.4(COL10A1):c.*6_*7insCCC

HGVS:

NC_000006.12:g.116120067_116120068insGGG
NG_008032.1:g.11067_11068insCCC
NG_021351.1:g.24232_24233insGGG
NM_000493.4:c.*6_*7insCCCMANE SELECT
NM_152729.3:c.529+2122_529+2123insGGGMANE SELECT
NC_000006.11:g.116441229_116441230insGGG
NC_000006.11:g.116441230_116441231insGGG
NM_000493.3:c.*6_*7insCCC

Links:

dbSNP: rs140722

NCBI 1000 Genomes Browser:

rs140722

Molecular consequence:

NM_000493.4:c.*6_*7insCCC - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_152729.3:c.529+2122_529+2123insGGG - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Metaphyseal chondrodysplasia
Synonyms:: Metaphyseal chondrodysplasia (disease)
Identifiers:: MONDO: MONDO:0000138; MedGen: C0265290; Human Phenotype Ontology: HP:0005871

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000459698	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Benign (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000459698

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Benign
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

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 Illumina Laboratory Services, Illumina, SCV000459698.2

#	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: Mar 10, 2024

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