NM_007348.4(ATF6):c.353del (p.Pro118fs) AND Achromatopsia 7

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 17, 2015
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:: RCV000191036.1

Allele description [Variation Report for NM_007348.4(ATF6):c.353del (p.Pro118fs)]

NM_007348.4(ATF6):c.353del (p.Pro118fs)

Gene:

ATF6:activating transcription factor 6 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1q23.3

Genomic location:

Preferred name:

NM_007348.4(ATF6):c.353del (p.Pro118fs)

HGVS:

NC_000001.11:g.161784095del
NG_029773.1:g.22852del
NM_007348.4:c.353delMANE SELECT
NP_031374.2:p.Pro118fs
NC_000001.10:g.161753885del
NM_007348.3:c.353delC

Protein change:

P118fs

Links:

dbSNP: rs797045171

NCBI 1000 Genomes Browser:

rs797045171

Molecular consequence:

NM_007348.4:c.353del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Achromatopsia 7 (ACHM7)
Identifiers:: MONDO: MONDO:0014677; MedGen: C4225297; Orphanet: 49382; OMIM: 616517

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000246108	Molecular Genetics Laboratory, Institute for Ophthalmic Research	criteria provided, single submitter (Kohl et al. (Nat Genet. 2015))	Pathogenic (Jun 17, 2015)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000246108

Molecular Genetics Laboratory, Institute for Ophthalmic Research

criteria provided, single submitter

(Kohl et al. (Nat Genet. 2015))

Pathogenic
(Jun 17, 2015)

germline

research

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
Turkish	germline	yes	1	1	not provided	1	yes	research

Citations

PubMed

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.

Kohl S, Zobor D, Chiang WC, Weisschuh N, Staller J, Gonzalez Menendez I, Chang S, Beck SC, Garcia Garrido M, Sothilingam V, Seeliger MW, Stanzial F, Benedicenti F, Inzana F, Héon E, Vincent A, Beis J, Strom TM, Rudolph G, Roosing S, Hollander AI, Cremers FP, et al.

Nat Genet. 2015 Jul;47(7):757-65. doi: 10.1038/ng.3319. Epub 2015 Jun 1.

PubMed [citation]

PMID:: 26029869
PMCID:: PMC4610820

Details of each submission

From Molecular Genetics Laboratory, Institute for Ophthalmic Research, SCV000246108.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Turkish	1	not provided	yes	research	PubMed (1)

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

Last Updated: Apr 23, 2022

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