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NM_001366385.1(CARD14):c.2007G>A (p.Glu669=) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 27, 2022
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:
RCV003224657.1

Allele description [Variation Report for NM_001366385.1(CARD14):c.2007G>A (p.Glu669=)]

NM_001366385.1(CARD14):c.2007G>A (p.Glu669=)

Genes:
SGSH:N-sulfoglucosamine sulfohydrolase [Gene - OMIM - HGNC]
CARD14:caspase recruitment domain family member 14 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_001366385.1(CARD14):c.2007G>A (p.Glu669=)
HGVS:
  • NC_000017.11:g.80202208G>A
  • NG_008229.2:g.23125C>T
  • NG_032778.1:g.37217G>A
  • NM_001257970.1:c.2007G>A
  • NM_001366385.1:c.2007G>AMANE SELECT
  • NM_024110.4:c.2007G>A
  • NP_001244899.1:p.Glu669=
  • NP_001353314.1:p.Glu669=
  • NP_077015.2:p.Glu669=
  • LRG_1330t1:c.2007G>A
  • LRG_1330:g.37217G>A
  • LRG_1330p1:p.Glu669=
  • NC_000017.10:g.78176007G>A
  • NR_047566.2:n.2134G>A
Molecular consequence:
  • NR_047566.2:n.2134G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001257970.1:c.2007G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001366385.1:c.2007G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_024110.4:c.2007G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Pityriasis rubra pilaris (PRP)
Synonyms:
Pityriasis rubra pilaris--familial type
Identifiers:
MONDO: MONDO:0100017; MedGen: C0032027; Orphanet: 2897; OMIM: 173200
Name:
Psoriasis 2
Synonyms:
Psoriasis susceptibility 2
Identifiers:
MONDO: MONDO:0011269; MedGen: C1864497; OMIM: 602723

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003919762Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 27, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago, SCV003919762.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant has not been reported in the literature and is not present in large control databases. Of note, this is a silent variant which does not change the amino acid, occurs at a nucleotide position that is weakly conserved evolutionarily, and is not predicted to impact splicing, reducing the probability that this variant is disease-causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 6, 2023