NM_000322.5(PRPH2):c.418_421dup (p.Tyr141fs) AND Patterned macular dystrophy 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 1, 1995
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:: RCV000014060.24

Allele description [Variation Report for NM_000322.5(PRPH2):c.418_421dup (p.Tyr141fs)]

NM_000322.5(PRPH2):c.418_421dup (p.Tyr141fs)

Gene:

PRPH2:peripherin 2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

6p21.1

Genomic location:

Preferred name:

NM_000322.5(PRPH2):c.418_421dup (p.Tyr141fs)

HGVS:

NC_000006.12:g.42721914_42721917dup
NG_009176.1:g.5704_5707dup
NG_009176.2:g.5704_5707dup
NM_000322.5:c.418_421dupMANE SELECT
NP_000313.2:p.Tyr141fs
NC_000006.11:g.42689652_42689655dup
NM_000322.4:c.418_421dup

Note:

NCBI staff reviewed the sequence information reported in PubMed 8004111 Fig. 1 to determine the location of this allele on the current reference sequence.

Protein change:

Y141fs

Links:

OMIM: 179605.0013; dbSNP: rs672601326

NCBI 1000 Genomes Browser:

rs672601326

Molecular consequence:

NM_000322.5:c.418_421dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Patterned macular dystrophy 1
Synonyms:: Macular dystrophy, butterfly-shaped pigmentary; Butterfly dystrophy of retinal pigment epithelium; Butterfly-shaped pigment dystrophy of the fovea
Identifiers:: MONDO: MONDO:0008210; MedGen: C4551999; Orphanet: 99001; OMIM: 169150

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000034307	OMIM	no assertion criteria provided	Pathogenic (Apr 1, 1995)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000034307

OMIM

no assertion criteria provided

Pathogenic
(Apr 1, 1995)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene.

Kim RY, Dollfus H, Keen TJ, Fitzke FW, Arden GB, Bhattacharya SS, Bird AC.

Arch Ophthalmol. 1995 Apr;113(4):451-5.

PubMed [citation]

PMID:: 7710395

Details of each submission

From OMIM, SCV000034307.2

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

Description

Kim et al. (1995) studied a kindred with patterned dystrophy of the retina (169150) with probable autosomal dominant inheritance, although no male-to-male transmission was observed. They demonstrated a 4-bp insertion at codon 140 of the peripherin/RDS gene.

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

Last Updated: Apr 23, 2022

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