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NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter) AND Retinitis pigmentosa

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 23, 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:
RCV001003226.1

Allele description [Variation Report for NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter)]

NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter)

Gene:
SPATA7:spermatogenesis associated 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q31.3
Genomic location:
Preferred name:
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter)
HGVS:
  • NC_000014.9:g.88416760T>A
  • NG_021183.1:g.36117T>A
  • NM_001040428.4:c.192T>A
  • NM_018418.5:c.288T>AMANE SELECT
  • NP_001035518.1:p.Cys64Ter
  • NP_060888.2:p.Cys96Ter
  • NC_000014.8:g.88883104T>A
  • NM_018418.4:c.288T>A
  • p.(Cys96*)
Protein change:
C64*
Links:
dbSNP: rs767745816
NCBI 1000 Genomes Browser:
rs767745816
Molecular consequence:
  • NM_001040428.4:c.192T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_018418.5:c.288T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Retinitis pigmentosa (RP)
Synonyms:
Tapetoretinal degeneration
Identifiers:
MONDO: MONDO:0019200; MeSH: D012174; MedGen: C0035334; Orphanet: 791; OMIM: 268000; OMIM: PS268000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001161304Sharon lab, Hadassah-Hebrew University Medical Center
no assertion criteria provided
Pathogenic
(Jun 23, 2019) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Sharon lab, Hadassah-Hebrew University Medical Center, SCV001161304.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024