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NM_000390.4(CHM):c.1113_1114del (p.Pro372fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 11, 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:
RCV001384659.5

Allele description [Variation Report for NM_000390.4(CHM):c.1113_1114del (p.Pro372fs)]

NM_000390.4(CHM):c.1113_1114del (p.Pro372fs)

Gene:
CHM:CHM Rab escort protein [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq21.2
Genomic location:
Preferred name:
NM_000390.4(CHM):c.1113_1114del (p.Pro372fs)
HGVS:
  • NC_000023.11:g.85956206_85956207del
  • NG_009874.2:g.96357_96358del
  • NM_000390.4:c.1113_1114delMANE SELECT
  • NM_001320959.1:c.669_670del
  • NM_001362517.1:c.669_670del
  • NM_001362518.2:c.669_670del
  • NM_001362519.1:c.669_670del
  • NP_000381.1:p.Pro372fs
  • NP_001307888.1:p.Pro224fs
  • NP_001349446.1:p.Pro224fs
  • NP_001349447.1:p.Pro224fs
  • NP_001349448.1:p.Pro224fs
  • LRG_699:g.96357_96358del
  • NC_000023.10:g.85211210_85211211del
  • NC_000023.10:g.85211211_85211212del
Protein change:
P224fs
Links:
dbSNP: rs2147663011
NCBI 1000 Genomes Browser:
rs2147663011
Molecular consequence:
  • NM_000390.4:c.1113_1114del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001320959.1:c.669_670del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001362517.1:c.669_670del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001362518.2:c.669_670del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001362519.1:c.669_670del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001584231Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Mar 11, 2020) 		germlineclinical testing

PubMed (3)
[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

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

A clinical molecular genetic service for United Kingdom families with choroideraemia.

Ramsden SC, O'Grady A, Fletcher T, O'Sullivan J, Hart-Holden N, Barton SJ, Hall G, Moore AT, Webster AR, Black GC.

Eur J Med Genet. 2013 Aug;56(8):432-8. doi: 10.1016/j.ejmg.2013.06.003. Epub 2013 Jun 25.

PubMed [citation]
PMID:
23811034
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001584231.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CHM are known to be pathogenic (PMID: 9067750, 23811034). This variant has not been reported in the literature in individuals with CHM-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro372Ilefs*45) in the CHM gene. It is expected to result in an absent or disrupted protein product.

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

Last Updated: Sep 29, 2024