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NM_170665.4(ATP2A2):c.2056A>G (p.Ile686Val) AND Keratosis follicularis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 6, 2020
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:
RCV001420559.1

Allele description [Variation Report for NM_170665.4(ATP2A2):c.2056A>G (p.Ile686Val)]

NM_170665.4(ATP2A2):c.2056A>G (p.Ile686Val)

Genes:
ATP2A2:ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 [Gene - OMIM - HGNC]
LOC126861637:MED14-independent group 3 enhancer GRCh37_chr12:110778306-110779505 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.11
Genomic location:
Preferred name:
NM_170665.4(ATP2A2):c.2056A>G (p.Ile686Val)
HGVS:
  • NC_000012.12:g.110340953A>G
  • NG_007097.2:g.64327A>G
  • NM_001681.4:c.2056A>G
  • NM_170665.4:c.2056A>GMANE SELECT
  • NP_001672.1:p.Ile686Val
  • NP_733765.1:p.Ile686Val
  • NC_000012.11:g.110778758A>G
Protein change:
I686V
Links:
dbSNP: rs147575100
NCBI 1000 Genomes Browser:
rs147575100
Molecular consequence:
  • NM_001681.4:c.2056A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170665.4:c.2056A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Keratosis follicularis (DAR)
Synonyms:
Darier disease; Darier's disease
Identifiers:
MONDO: MONDO:0007417; MedGen: C0022595; Orphanet: 218; OMIM: 124200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001622865New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(May 6, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV001622865.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023