NM_001142800.2(EYS):c.6381_6393del (p.Gln2127fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 15, 2020
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:: RCV001384536.5

Allele description [Variation Report for NM_001142800.2(EYS):c.6381_6393del (p.Gln2127fs)]

NM_001142800.2(EYS):c.6381_6393del (p.Gln2127fs)

Gene:

EYS:eyes shut homolog [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6q12

Genomic location:

Preferred name:

NM_001142800.2(EYS):c.6381_6393del (p.Gln2127fs)

HGVS:

NC_000006.12:g.64230627_64230639del
NG_023443.2:g.1481591_1481603del
NM_001142800.2:c.6381_6393delMANE SELECT
NM_001292009.2:c.6381_6393del
NP_001136272.1:p.Gln2127fs
NP_001278938.1:p.Gln2127fs
NC_000006.11:g.64940516_64940528del
NC_000006.11:g.64940520_64940532del

Protein change:

Q2127fs

Links:

dbSNP: rs2150337928

NCBI 1000 Genomes Browser:

rs2150337928

Molecular consequence:

NM_001142800.2:c.6381_6393del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001292009.2:c.6381_6393del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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aminopeptidase N [Vibrio parahaemolyticus]
aminopeptidase N [Vibrio parahaemolyticus]
gi|2734770992|emb|CAI2293102.1||gnl CAMP|CAI2293102

Protein
Mus musculus RIKEN cDNA 2010107G23 gene (2010107G23Rik), mRNA
Mus musculus RIKEN cDNA 2010107G23 gene (2010107G23Rik), mRNA
gi|21312459|ref|NM_027251.1|

Nucleotide
JGI_XZT33900.rev NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7610165 3'...
JGI_XZT33900.rev NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7610165 3', mRNA sequence
gi|74089304|gnl|dbEST|31254678|gb|C 79.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001584048	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jul 15, 2020)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 18836446, 20333770, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001584048

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jul 15, 2020)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.

Abd El-Aziz MM, Barragan I, O'Driscoll CA, Goodstadt L, Prigmore E, Borrego S, Mena M, Pieras JI, El-Ashry MF, Safieh LA, Shah A, Cheetham ME, Carter NP, Chakarova C, Ponting CP, Bhattacharya SS, Antinolo G.

Nat Genet. 2008 Nov;40(11):1285-7. doi: 10.1038/ng.241. Epub 2008 Oct 5.

PubMed [citation]

PMID:: 18836446
PMCID:: PMC2719291

EYS is a major gene for rod-cone dystrophies in France.

Audo I, Sahel JA, Mohand-Saïd S, Lancelot ME, Antonio A, Moskova-Doumanova V, Nandrot EF, Doumanov J, Barragan I, Antinolo G, Bhattacharya SS, Zeitz C.

Hum Mutat. 2010 May;31(5):E1406-35. doi: 10.1002/humu.21249.

PubMed [citation]

PMID:: 20333770

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001584048.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in EYS are known to be pathogenic (PMID: 18836446, 20333770). This variant has not been reported in the literature in individuals with EYS-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln2127Hisfs*26) in the EYS gene. It is expected to result in an absent or disrupted protein product.

#	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: Sep 29, 2024

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