NM_001271938.2(MEGF8):c.1342C>T (p.Arg448Ter) AND MEGF8-related Carpenter syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 2, 2012
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:: RCV000033074.4

Allele description [Variation Report for NM_001271938.2(MEGF8):c.1342C>T (p.Arg448Ter)]

NM_001271938.2(MEGF8):c.1342C>T (p.Arg448Ter)

Gene:

MEGF8:multiple EGF like domains 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

Preferred name:

NM_001271938.2(MEGF8):c.1342C>T (p.Arg448Ter)

HGVS:

NC_000019.10:g.42336904C>T
NG_033030.1:g.16296C>T
NM_001271938.2:c.1342C>TMANE SELECT
NM_001410.3:c.1342C>T
NP_001258867.1:p.Arg448Ter
NP_001401.2:p.Arg448Ter
NC_000019.9:g.42841056C>T

Protein change:

R448*; ARG448TER

Links:

OMIM: 604267.0003; dbSNP: rs397514621

NCBI 1000 Genomes Browser:

rs397514621

Molecular consequence:

NM_001271938.2:c.1342C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001410.3:c.1342C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: MEGF8-related Carpenter syndrome
Synonyms:: Carpenter syndrome 2
Identifiers:: MONDO: MONDO:0013998; MedGen: C3554247; Orphanet: 65759; OMIM: 614976

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000056854	OMIM	no assertion criteria provided	Pathogenic (Nov 2, 2012)	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

SCV000056854

OMIM

no assertion criteria provided

Pathogenic
(Nov 2, 2012)

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

Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.

Twigg SR, Lloyd D, Jenkins D, Elçioglu NE, Cooper CD, Al-Sannaa N, Annagür A, Gillessen-Kaesbach G, Hüning I, Knight SJ, Goodship JA, Keavney BD, Beales PL, Gileadi O, McGowan SJ, Wilkie AO.

Am J Hum Genet. 2012 Nov 2;91(5):897-905. doi: 10.1016/j.ajhg.2012.08.027. Epub 2012 Oct 11.

PubMed [citation]

PMID:: 23063620
PMCID:: PMC3487118

Details of each submission

From OMIM, SCV000056854.3

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

Description

For discussion of the arg448-to-ter (R448X) mutation in the MEGF8 gene that was found in compound heterozygous state in a patient with features of Carpenter syndrome (CRPT2; 614976) by Twigg et al. (2012), see 604267.0002.

#	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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