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NM_000052.7(ATP7A):c.1946+1G>T AND Cutis laxa, X-linked

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 21, 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:
RCV001254118.4

Allele description [Variation Report for NM_000052.7(ATP7A):c.1946+1G>T]

NM_000052.7(ATP7A):c.1946+1G>T

Gene:
ATP7A:ATPase copper transporting alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq21.1
Genomic location:
Preferred name:
NM_000052.7(ATP7A):c.1946+1G>T
HGVS:
  • NC_000023.11:g.78011253G>T
  • NG_013224.2:g.105557G>T
  • NM_000052.6:c.1946+1G>T
  • NM_000052.7:c.1946+1G>TMANE SELECT
  • NM_001282224.2:c.1946+1G>T
  • NC_000023.10:g.77266750G>T
Links:
dbSNP: rs797045340
NCBI 1000 Genomes Browser:
rs797045340
Molecular consequence:
  • NM_000052.7:c.1946+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001282224.2:c.1946+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

Condition(s)

Name:
Cutis laxa, X-linked (OHS)
Synonyms:
EDS IX; Occipital horn syndrome; Ehlers-Danlos syndrome, occipital horn type (formerly); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010572; MedGen: C0268353; Orphanet: 198; OMIM: 304150

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001430050Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
criteria provided, single submitter

(Classification criteria August 2017)		Pathogenic
(Apr 21, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV001430050.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1bloodnot provided1not providednot providednot provided

Last Updated: Apr 20, 2024