NM_178857.6(RP1L1):c.6469_6470delinsAA (p.Ala2157Asn) AND Occult macular dystrophy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 23, 2021
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:: RCV001809297.1

Allele description [Variation Report for NM_178857.6(RP1L1):c.6469_6470delinsAA (p.Ala2157Asn)]

NM_178857.6(RP1L1):c.6469_6470delinsAA (p.Ala2157Asn)

Gene:

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

Variant type:

Indel

Cytogenetic location:

8p23.1

Genomic location:

Preferred name:

NM_178857.6(RP1L1):c.6469_6470delinsAA (p.Ala2157Asn)

HGVS:

NC_000008.11:g.10607628_10607629delinsTT
NG_028035.1:g.52479_52480delinsAA
NM_178857.6:c.6469_6470delinsAAMANE SELECT
NP_849188.4:p.Ala2157Asn
NC_000008.10:g.10465138_10465139delinsTT
NM_178857.5:c.6469_6470delinsAA

Protein change:

A2157N

Links:

dbSNP: rs2117190218

NCBI 1000 Genomes Browser:

rs2117190218

Molecular consequence:

NM_178857.6:c.6469_6470delinsAA - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Occult macular dystrophy (OCMD)
Synonyms:: OMD; OCCULT MACULAR DYSTROPHY, SUSCEPTIBILITY TO
Identifiers:: MONDO: MONDO:0013316; MedGen: C3150833; Orphanet: 247834; OMIM: 613587; Human Phenotype Ontology: HP:0030636

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002059822	Centogene AG - the Rare Disease Company	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 23, 2021)	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

SCV002059822

Centogene AG - the Rare Disease Company

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 23, 2021)

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	unknown	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 Centogene AG - the Rare Disease Company, SCV002059822.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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