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NM_000390.4(CHM):c.569C>G (p.Ser190Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 19, 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:
RCV001388808.7

Allele description [Variation Report for NM_000390.4(CHM):c.569C>G (p.Ser190Ter)]

NM_000390.4(CHM):c.569C>G (p.Ser190Ter)

Gene:
CHM:CHM Rab escort protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq21.2
Genomic location:
Preferred name:
NM_000390.4(CHM):c.569C>G (p.Ser190Ter)
HGVS:
  • NC_000023.11:g.85963798G>C
  • NG_009874.2:g.88765C>G
  • NM_000390.4:c.569C>GMANE SELECT
  • NM_001320959.1:c.125C>G
  • NM_001362517.1:c.125C>G
  • NM_001362518.2:c.125C>G
  • NM_001362519.1:c.125C>G
  • NP_000381.1:p.Ser190Ter
  • NP_001307888.1:p.Ser42Ter
  • NP_001349446.1:p.Ser42Ter
  • NP_001349447.1:p.Ser42Ter
  • NP_001349448.1:p.Ser42Ter
  • LRG_699:g.88765C>G
  • NC_000023.10:g.85218803G>C
Protein change:
S190*
Links:
dbSNP: rs1360735193
NCBI 1000 Genomes Browser:
rs1360735193
Molecular consequence:
  • NM_000390.4:c.569C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001320959.1:c.125C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001362517.1:c.125C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001362518.2:c.125C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001362519.1:c.125C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001589955Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jul 19, 2022) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Mutational analysis of patients with the diagnosis of choroideremia.

McTaggart KE, Tran M, Mah DY, Lai SW, Nesslinger NJ, MacDonald IM.

Hum Mutat. 2002 Sep;20(3):189-96.

PubMed [citation]
PMID:
12203991

Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene.

van den Hurk JA, Schwartz M, van Bokhoven H, van de Pol TJ, Bogerd L, Pinckers AJ, Bleeker-Wagemakers EM, Pawlowitzki IH, Rüther K, Ropers HH, Cremers FP.

Hum Mutat. 1997;9(2):110-7. Review.

PubMed [citation]
PMID:
9067750
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001589955.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

ClinVar contains an entry for this variant (Variation ID: 1075259). This premature translational stop signal has been observed in individual(s) with choroideremia (PMID: 12203991). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser190*) in the CHM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHM are known to be pathogenic (PMID: 9067750, 23811034). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024