NM_006269.2(RP1):c.6236C>G (p.Ser2079Ter) AND Retinitis pigmentosa 1

Clinical significance:Likely pathogenic (Last evaluated: Jun 6, 2019)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001029941.1

Allele description [Variation Report for NM_006269.2(RP1):c.6236C>G (p.Ser2079Ter)]

NM_006269.2(RP1):c.6236C>G (p.Ser2079Ter)

Gene:
RP1:RP1 axonemal microtubule associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q12.1
Genomic location:
Preferred name:
NM_006269.2(RP1):c.6236C>G (p.Ser2079Ter)
HGVS:
  • NC_000008.11:g.54630118C>G
  • NG_009840.1:g.19052C>G
  • NG_009840.2:g.19052C>G
  • NM_001375654.1:c.787+7830C>G
  • NM_006269.2:c.6236C>GMANE SELECT
  • NP_006260.1:p.Ser2079Ter
  • NC_000008.10:g.55542678C>G
  • NM_006269.1:c.6236C>G
Protein change:
S2079*
Links:
dbSNP: rs1585569717
NCBI 1000 Genomes Browser:
rs1585569717
Molecular consequence:
  • NM_001375654.1:c.787+7830C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_006269.2:c.6236C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Retinitis pigmentosa 1 (RP1)
Identifiers:
MONDO: MONDO:0008377; MedGen: C0220701; Orphanet: 791; OMIM: 180100

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001192737Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcareno assertion criteria providedLikely pathogenic
(Jun 6, 2019)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare, SCV001192737.1

#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: Oct 7, 2021

Support Center