NM_000193.4(SHH):c.1102G>T (p.Glu368Ter) AND Microphthalmia, isolated, with coloboma 5

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 1, 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:: RCV000824859.1

Allele description [Variation Report for NM_000193.4(SHH):c.1102G>T (p.Glu368Ter)]

NM_000193.4(SHH):c.1102G>T (p.Glu368Ter)

Gene:

SHH:sonic hedgehog signaling molecule [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q36.3

Genomic location:

Preferred name:

NM_000193.4(SHH):c.1102G>T (p.Glu368Ter)

HGVS:

NC_000007.14:g.155803187C>A
NG_007504.2:g.14087G>T
NM_000193.4:c.1102G>TMANE SELECT
NM_001310462.2:c.302-2942G>T
NP_000184.1:p.Glu368Ter
NC_000007.13:g.155595881C>A
NM_000193.2:c.1102G>T

Protein change:

E368*

Links:

dbSNP: rs753315599

NCBI 1000 Genomes Browser:

rs753315599

Molecular consequence:

NM_001310462.2:c.302-2942G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_000193.4:c.1102G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Microphthalmia, isolated, with coloboma 5 (MCOPCB5)
Synonyms:: Microphthalmia with Coloboma 5; MICROPHTHALMIA/COLOBOMA 5
Identifiers:: MONDO: MONDO:0012709; MedGen: C1968843; Orphanet: 98938; OMIM: 611638

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000965761	Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	criteria provided, single submitter (ACMG Guidelines, 2007)	Likely pathogenic (Jan 1, 2015)	inherited	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

SCV000965761

Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

criteria provided, single submitter

(ACMG Guidelines, 2007)

Likely pathogenic
(Jan 1, 2015)

inherited

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	inherited	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]

PMID:: 18414213

Details of each submission

From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV000965761.1

#	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	inherited	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 5, 2024

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