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NM_001099287.2(NIPAL4):c.221T>A (p.Val74Asp) AND Autosomal recessive congenital ichthyosis 6

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 16, 2019
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:
RCV000791219.2

Allele description [Variation Report for NM_001099287.2(NIPAL4):c.221T>A (p.Val74Asp)]

NM_001099287.2(NIPAL4):c.221T>A (p.Val74Asp)

Gene:
NIPAL4:NIPA like domain containing 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q33.3
Genomic location:
Preferred name:
NM_001099287.2(NIPAL4):c.221T>A (p.Val74Asp)
HGVS:
  • NC_000005.10:g.157463277T>A
  • NG_016626.1:g.8259T>A
  • NM_001099287.2:c.221T>AMANE SELECT
  • NM_001172292.2:c.221T>A
  • NP_001092757.1:p.Val136Asp
  • NP_001092757.2:p.Val74Asp
  • NP_001165763.1:p.Val136Asp
  • NP_001165763.2:p.Val74Asp
  • NC_000005.9:g.156890285T>A
  • NM_001099287.1:c.407T>A
  • NM_001172292.1:c.407T>A
Protein change:
V136D
Links:
dbSNP: rs1581265715
NCBI 1000 Genomes Browser:
rs1581265715
Molecular consequence:
  • NM_001099287.2:c.221T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001172292.2:c.221T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive congenital ichthyosis 6 (ARCI6)
Identifiers:
MONDO: MONDO:0012847; MedGen: C2677065; Orphanet: 313; Orphanet: 79394; OMIM: 612281

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000930505Institute for Human Genetics, University Medical Center Freiburg
no assertion criteria provided
Pathogenic
(May 16, 2019) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Institute for Human Genetics, University Medical Center Freiburg, SCV000930505.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 26, 2023