NM_000381.4(MID1):c.1688dup (p.Lys564fs) AND X-linked Opitz G/BBB syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 4, 2022
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:: RCV003314510.1

Allele description [Variation Report for NM_000381.4(MID1):c.1688dup (p.Lys564fs)]

NM_000381.4(MID1):c.1688dup (p.Lys564fs)

Genes:

LOC126863207:BRD4-independent group 4 enhancer GRCh37_chrX:10416979-10418178 [Gene]
MID1:midline 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

Xp22.2

Genomic location:

Preferred name:

NM_000381.4(MID1):c.1688dup (p.Lys564fs)

HGVS:

NC_000023.11:g.10449687dup
NG_008197.2:g.389007dup
NG_087703.1:g.849dup
NM_000381.4:c.1688dupMANE SELECT
NM_001098624.2:c.1688dup
NM_001193277.1:c.1688dup
NM_001347733.2:c.1688dup
NM_033289.2:c.1574dup
NM_033290.4:c.1688dup
NP_000372.1:p.Lys564fs
NP_001092094.1:p.Lys564fs
NP_001180206.1:p.Lys564fs
NP_001334662.1:p.Lys564fs
NP_150631.1:p.Lys526fs
NP_150632.1:p.Lys564fs
NC_000023.10:g.10417727dup

Protein change:

K526fs

Molecular consequence:

NM_000381.4:c.1688dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001098624.2:c.1688dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001193277.1:c.1688dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001347733.2:c.1688dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033289.2:c.1574dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033290.4:c.1688dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: X-linked Opitz G/BBB syndrome (GBBB)
Synonyms:: OPITZ BBBG SYNDROME, TYPE I; OPITZ SYNDROME, X-LINKED; OPITZ-G SYNDROME, TYPE I; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010222; MedGen: C2936904; Orphanet: 2745; OMIM: 300000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004013959	Laboratory of Medical Genetics, National & Kapodistrian University of Athens	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Oct 4, 2022)	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

SCV004013959

Laboratory of Medical Genetics, National & Kapodistrian University of Athens

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Oct 4, 2022)

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
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Laboratory of Medical Genetics, National & Kapodistrian University of Athens, SCV004013959.1

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

Description

PVS1, PM2

#	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		not provided	not provided	not provided	not provided

Last Updated: Aug 5, 2023

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Relating variation to medicine