U.S. flag

An official website of the United States government

NM_000390.4(CHM):c.1511-1G>A AND CHM-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 12, 2024
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:
RCV003427550.5

Allele description [Variation Report for NM_000390.4(CHM):c.1511-1G>A]

NM_000390.4(CHM):c.1511-1G>A

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.1511-1G>A
HGVS:
  • NC_000023.11:g.85879064C>T
  • NG_009874.2:g.173499G>A
  • NM_000390.3:c.1511-1G>A
  • NM_000390.4:c.1511-1G>AMANE SELECT
  • NM_001320959.1:c.1067-1G>A
  • NM_001362517.1:c.1067-1G>A
  • NM_001362518.2:c.1067-1G>A
  • NM_001362519.1:c.1067-1G>A
  • LRG_699:g.173499G>A
  • NC_000023.10:g.85134069C>T
Molecular consequence:
  • NM_000390.4:c.1511-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001320959.1:c.1067-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001362517.1:c.1067-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001362518.2:c.1067-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001362519.1:c.1067-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
CHM-related disorder
Synonyms:
CHM-related condition
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004118458PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Apr 12, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004118458.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The CHM c.1511-1G>A variant is predicted to disrupt the AG splice acceptor site and interfere with normal splicing. This variant has been reported in families with choroideremia (Freund et al. 2016. PubMed ID: 27247961; Vitale et al. 2020. PubMed ID: 33062396). This variant has not been reported in a large population database, indicating this variant is rare. Variants that disrupt the consensus splice acceptor site in CHM are expected to be pathogenic. Given the evidence, we interpret c.1511-1G>A as pathogenic.

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

Last Updated: Oct 13, 2024