NM_024809.5(TCTN2):c.*330_*331insACTC AND Cutis laxa, recessive

NM_024809.5(TCTN2):c.330_331insACTC AND Cutis laxa, recessive

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:: RCV000288832.5

Allele description [Variation Report for NM_024809.5(TCTN2):c.330_331insACTC]

NM_024809.5(TCTN2):c.330_331insACTC

Genes:

ATP6V0A2:ATPase H+ transporting V0 subunit a2 [Gene - OMIM - HGNC]
TCTN2:tectonic family member 2 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

12q24.31

Genomic location:

Preferred name:

NM_024809.5(TCTN2):c.*330_*331insACTC

HGVS:

NC_000012.12:g.123708043_123708044insACTC
NG_012743.1:g.726_727insACTC
NG_030442.1:g.41931_41932insACTC
NM_001143850.3:c.*330_*331insACTC
NM_024809.5:c.*330_*331insACTCMANE SELECT
NC_000012.11:g.124192590_124192591insACTC
NM_024809.4:c.*327_*328insCTCA
NM_024809.4:c.*330_*331insACTC

Links:

dbSNP: rs56918215

NCBI 1000 Genomes Browser:

rs56918215

Molecular consequence:

NM_001143850.3:c.*330_*331insACTC - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_024809.5:c.*330_*331insACTC - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:: Cutis laxa, recessive
Synonyms:: Cutis laxa, type 1
Identifiers:: MedGen: C2931134

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000483335	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

SCV000483335

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, SCV000483335.2

#	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: Jun 10, 2023

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