NM_014285.7(EXOSC2):c.673-1G>T AND Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 25, 2024
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:: RCV003988855.2

Allele description [Variation Report for NM_014285.7(EXOSC2):c.673-1G>T]

NM_014285.7(EXOSC2):c.673-1G>T

Gene:

EXOSC2:exosome component 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.12

Genomic location:

Preferred name:

NM_014285.7(EXOSC2):c.673-1G>T

HGVS:

NC_000009.12:g.130703052G>T
NM_001282708.1:c.595-1G>T
NM_001282709.1:c.583-1G>T
NM_014285.7:c.673-1G>TMANE SELECT
NC_000009.11:g.133578439G>T
NM_014285.6:c.673-1G>T

Links:

dbSNP: rs1465736368

NCBI 1000 Genomes Browser:

rs1465736368

Molecular consequence:

NM_001282708.1:c.595-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001282709.1:c.583-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_014285.7:c.673-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:: Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Synonyms:: Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
Identifiers:: MONDO: MONDO:0044634; MedGen: C4540367; OMIM: 617763

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004805466	Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 25, 2024)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004805466

Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 25, 2024)

germline

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV004805466.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 6, 2024

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