NM_178857.6(RP1L1):c.5540_5541del (p.Glu1847fs) AND Retinal dystrophy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2022
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:: RCV004815828.1

Allele description [Variation Report for NM_178857.6(RP1L1):c.5540_5541del (p.Glu1847fs)]

NM_178857.6(RP1L1):c.5540_5541del (p.Glu1847fs)

Gene:

RP1L1:RP1 like 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

8p23.1

Genomic location:

Preferred name:

NM_178857.6(RP1L1):c.5540_5541del (p.Glu1847fs)

HGVS:

NC_000008.11:g.10608557CT[1]
NG_028035.1:g.51548AG[1]
NM_178857.6:c.5540_5541delMANE SELECT
NP_849188.4:p.Glu1847fs
NC_000008.10:g.10466067CT[1]

Protein change:

E1847fs

Molecular consequence:

NM_178857.6:c.5540_5541del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Retinal dystrophy
Synonyms:: Inherited retinal dystrophy
Identifiers:: MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005068805	Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	no assertion criteria provided (ACMG Guidelines, 2015)	Pathogenic (Jan 1, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005068805

Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

no assertion criteria provided

(ACMG Guidelines, 2015)

Pathogenic
(Jan 1, 2022)

germline

clinical testing

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

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 Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg, SCV005068805.1

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

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

Last Updated: Dec 28, 2024

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