NM_001563.4(IMPG1):c.1530del (p.Gly511fs) AND Vitelliform macular dystrophy 4

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 1, 2013
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:: RCV002466292.1

Allele description [Variation Report for NM_001563.4(IMPG1):c.1530del (p.Gly511fs)]

NM_001563.4(IMPG1):c.1530del (p.Gly511fs)

Gene:

IMPG1:interphotoreceptor matrix proteoglycan 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6q14.1

Genomic location:

Preferred name:

NM_001563.4(IMPG1):c.1530del (p.Gly511fs)

HGVS:

NC_000006.12:g.75950856del
NG_041812.1:g.126823del
NM_001282368.2:c.1296del
NM_001563.4:c.1530delMANE SELECT
NP_001269297.1:p.Gly433fs
NP_001554.2:p.Gly511fs
NC_000006.11:g.76660573del

Protein change:

G433fs

Molecular consequence:

NM_001282368.2:c.1296del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001563.4:c.1530del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Vitelliform macular dystrophy 4
Identifiers:: MONDO: MONDO:0014508; MedGen: C4015342; Orphanet: 99000; OMIM: 616151

Recent activity

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Ipomoea proxima voucher PT-7147 small subunit ribosomal RNA gene, partial sequen...
Ipomoea proxima voucher PT-7147 small subunit ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and large subunit ribosomal RNA gene, partial sequence
gi|1783629695|gb|MN825735.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002564576	Arcensus	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Feb 1, 2013)	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

SCV002564576

Arcensus

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Feb 1, 2013)

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 Arcensus, SCV002564576.1

#	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 17, 2022

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