NM_006017.3(PROM1):c.730C>T (p.Arg244Ter) AND Cone-rod dystrophy 12

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 22, 2023
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:: RCV003236584.1

Allele description [Variation Report for NM_006017.3(PROM1):c.730C>T (p.Arg244Ter)]

NM_006017.3(PROM1):c.730C>T (p.Arg244Ter)

Gene:

PROM1:prominin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p15.32

Genomic location:

Preferred name:

NM_006017.3(PROM1):c.730C>T (p.Arg244Ter)

HGVS:

NC_000004.12:g.16023380G>A
NG_011696.2:g.65680C>T
NM_001145847.2:c.703C>T
NM_001145848.2:c.703C>T
NM_001145849.2:c.730C>T
NM_001145850.2:c.730C>T
NM_001145851.2:c.703C>T
NM_001145852.2:c.703C>T
NM_001371406.1:c.703C>T
NM_001371407.1:c.703C>T
NM_001371408.1:c.703C>T
NM_006017.3:c.730C>TMANE SELECT
NP_001139319.1:p.Arg235Ter
NP_001139320.1:p.Arg235Ter
NP_001139321.1:p.Arg244Ter
NP_001139321.1:p.Arg244Ter
NP_001139322.1:p.Arg244Ter
NP_001139323.1:p.Arg235Ter
NP_001139324.1:p.Arg235Ter
NP_001358335.1:p.Arg235Ter
NP_001358336.1:p.Arg235Ter
NP_001358337.1:p.Arg235Ter
NP_006008.1:p.Arg244Ter
NC_000004.11:g.16025003G>A
NG_011696.1:g.65621C>T
NM_001145849.1:c.730C>T

Protein change:

R235*

Links:

dbSNP: rs373331232

NCBI 1000 Genomes Browser:

rs373331232

Molecular consequence:

NM_001145847.2:c.703C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001145848.2:c.703C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001145849.2:c.730C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001145850.2:c.730C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001145851.2:c.703C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001145852.2:c.703C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001371406.1:c.703C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001371407.1:c.703C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001371408.1:c.703C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_006017.3:c.730C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Cone-rod dystrophy 12 (CORD12)
Identifiers:: MONDO: MONDO:0012983; MedGen: C2675210; Orphanet: 1872; OMIM: 612657

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003934947	Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 22, 2023)	inherited	clinical testing	PubMed (2) [See all records that cite these PMIDs] 26702251, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003934947

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 22, 2023)

inherited

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
South East Asian	inherited	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy.

Eidinger O, Leibu R, Newman H, Rizel L, Perlman I, Ben-Yosef T.

Mol Vis. 2015;21:1295-306.

PubMed [citation]

PMID:: 26702251
PMCID:: PMC4676936

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 Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, SCV003934947.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	South East Asian	1	not provided	not provided	clinical testing	PubMed (2)

Description

This heterozygous variant c.730C>T (p.Arg244Ter) has been identified in a proband with features suggestive of cone rod dystrophy in compound heterozygous state with c.1946C>T (Ser649Leu). This has been previously reported as pathogenic in PMID: 26702251

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

Last Updated: Sep 29, 2024

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