NM_153704.6(TMEM67):c.748G>A (p.Gly250Arg) AND Meckel-Gruber syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 13, 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:: RCV000114249.6

Allele description [Variation Report for NM_153704.6(TMEM67):c.748G>A (p.Gly250Arg)]

NM_153704.6(TMEM67):c.748G>A (p.Gly250Arg)

Gene:

TMEM67:transmembrane protein 67 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q22.1

Genomic location:

Preferred name:

NM_153704.6(TMEM67):c.748G>A (p.Gly250Arg)

HGVS:

NC_000008.11:g.93780626G>A
NG_009190.1:g.30783G>A
NM_001142301.1:c.505G>A
NM_153704.6:c.748G>AMANE SELECT
NP_001135773.1:p.Gly169Arg
NP_714915.3:p.Gly250Arg
NP_714915.3:p.Gly250Arg
LRG_688t1:c.748G>A
LRG_688t2:c.505G>A
LRG_688:g.30783G>A
LRG_688p1:p.Gly250Arg
LRG_688p2:p.Gly169Arg
NC_000008.10:g.94792854G>A
NM_153704.5:c.748G>A
NR_024522.2:n.769G>A

Protein change:

G169R

Links:

dbSNP: rs587779736

NCBI 1000 Genomes Browser:

rs587779736

Molecular consequence:

NM_001142301.1:c.505G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_153704.6:c.748G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_024522.2:n.769G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Meckel-Gruber syndrome
Synonyms:: DYSENCEPHALIA SPLANCHNOCYSTICA; Gruber syndrome; Dysencephalia splachnocystica
Identifiers:: MONDO: MONDO:0018921; MedGen: C0265215; OMIM: PS249000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000147808	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2007)	Likely pathogenic (Sep 13, 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

SCV000147808

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2007)

Likely pathogenic
(Sep 13, 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
	germline	yes	1	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 Genetic Services Laboratory, University of Chicago, SCV000147808.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		1	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		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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