NM_173076.3(ABCA12):c.2658_2661del (p.Glu886fs) AND Autosomal recessive congenital ichthyosis 4A

Germline classification:: Pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003327520.1

Allele description [Variation Report for NM_173076.3(ABCA12):c.2658_2661del (p.Glu886fs)]

NM_173076.3(ABCA12):c.2658_2661del (p.Glu886fs)

Gene:

ABCA12:ATP binding cassette subfamily A member 12 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_173076.3(ABCA12):c.2658_2661del (p.Glu886fs)

HGVS:

NC_000002.12:g.215004232_215004235del
NG_007074.1:g.139194_139197del
NM_015657.4:c.1704_1707del
NM_173076.3:c.2658_2661delMANE SELECT
NP_056472.2:p.Glu568fs
NP_775099.2:p.Glu886fs
NC_000002.11:g.215868956_215868959del
NM_173076.3:c.2658_2661delACTAMANE SELECT
NR_103740.2:n.3100_3103del

Protein change:

E568fs

Links:

dbSNP: rs2105992974

NCBI 1000 Genomes Browser:

rs2105992974

Molecular consequence:

NM_015657.4:c.1704_1707del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_173076.3:c.2658_2661del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_103740.2:n.3100_3103del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Autosomal recessive congenital ichthyosis 4A (LI2)
Synonyms:: Lamellar ichthyosis, type 2; Ichthyosis congenita IIB
Identifiers:: MONDO: MONDO:0011026; MedGen: C1832550; Orphanet: 313; OMIM: 601277

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004034997	Narges Medical Genetic and Prenatal Diagnosis Lab	no assertion criteria provided	Pathogenic	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004034997

Narges Medical Genetic and Prenatal Diagnosis Lab

no assertion criteria provided

Pathogenic

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Narges Medical Genetic and Prenatal Diagnosis Lab, SCV004034997.1

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

Last Updated: Sep 8, 2024

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