NM_001378778.1(MPDZ):c.3211C>T (p.Arg1071Ter) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 25, 2023
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:: RCV002530587.2

Allele description

NM_001378778.1(MPDZ):c.3211C>T (p.Arg1071Ter)

Gene:

MPDZ:multiple PDZ domain crumbs cell polarity complex component [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p23

Genomic location:

Preferred name:

NM_001378778.1(MPDZ):c.3211C>T (p.Arg1071Ter)

HGVS:

NC_000009.12:g.13168409G>A
NG_042810.1:g.116156C>T
NM_001261406.2:c.3211C>T
NM_001261407.2:c.3211C>T
NM_001330637.2:c.3211C>T
NM_001375413.1:c.3211C>T
NM_001375416.1:c.3211C>T
NM_001375417.1:c.3211C>T
NM_001375418.1:c.3211C>T
NM_001375419.1:c.3211C>T
NM_001375420.1:c.3211C>T
NM_001375421.1:c.3211C>T
NM_001375422.1:c.3211C>T
NM_001375423.1:c.3211C>T
NM_001375424.1:c.3211C>T
NM_001375425.1:c.3211C>T
NM_001375426.1:c.3211C>T
NM_001375427.1:c.3211C>T
NM_001378778.1:c.3211C>TMANE SELECT
NM_003829.5:c.3211C>T
NP_001248335.1:p.Arg1071Ter
NP_001248336.1:p.Arg1071Ter
NP_001317566.1:p.Arg1071Ter
NP_001317566.1:p.Arg1071Ter
NP_001362342.1:p.Arg1071Ter
NP_001362345.1:p.Arg1071Ter
NP_001362346.1:p.Arg1071Ter
NP_001362347.1:p.Arg1071Ter
NP_001362348.1:p.Arg1071Ter
NP_001362349.1:p.Arg1071Ter
NP_001362350.1:p.Arg1071Ter
NP_001362351.1:p.Arg1071Ter
NP_001362352.1:p.Arg1071Ter
NP_001362353.1:p.Arg1071Ter
NP_001362354.1:p.Arg1071Ter
NP_001362355.1:p.Arg1071Ter
NP_001362356.1:p.Arg1071Ter
NP_001365707.1:p.Arg1071Ter
NP_003820.2:p.Arg1071Ter
NC_000009.11:g.13168408G>A
NM_001330637.1:c.3211C>T

Protein change:

R1071*; ARG1071TER

Links:

OMIM: 603785.0004; dbSNP: rs376078512

NCBI 1000 Genomes Browser:

rs376078512

Molecular consequence:

NM_001261406.2:c.3211C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001261407.2:c.3211C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001330637.2:c.3211C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001375413.1:c.3211C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001375416.1:c.3211C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001375417.1:c.3211C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001375418.1:c.3211C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001375419.1:c.3211C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001375420.1:c.3211C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001375421.1:c.3211C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001375422.1:c.3211C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001375423.1:c.3211C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001375424.1:c.3211C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001375425.1:c.3211C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001375426.1:c.3211C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001375427.1:c.3211C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001378778.1:c.3211C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_003829.5:c.3211C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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ABC transporter, ATP-binding protein [Clostridium acetobutylicum DSM 1731]
ABC transporter, ATP-binding protein [Clostridium acetobutylicum DSM 1731]
gi|336293492|gnl|SPMB|SMB_G0148|gb| 626.1|

Protein
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003441332	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Dec 25, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 23240096, 28556411, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003441332

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Dec 25, 2023)

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

Mutation in MPDZ causes severe congenital hydrocephalus.

Al-Dosari MS, Al-Owain M, Tulbah M, Kurdi W, Adly N, Al-Hemidan A, Masoodi TA, Albash B, Alkuraya FS.

J Med Genet. 2013 Jan;50(1):54-8. doi: 10.1136/jmedgenet-2012-101294.

PubMed [citation]

PMID:: 23240096

The genetic landscape of familial congenital hydrocephalus.

Shaheen R, Sebai MA, Patel N, Ewida N, Kurdi W, Altweijri I, Sogaty S, Almardawi E, Seidahmed MZ, Alnemri A, Madirevula S, Ibrahim N, Abdulwahab F, Hashem M, Al-Sheddi T, Alomar R, Alobeid E, Sallout B, AlBaqawi B, AlAali W, Ajaji N, Lesmana H, et al.

Ann Neurol. 2017 Jun;81(6):890-897. doi: 10.1002/ana.24964.

PubMed [citation]

PMID:: 28556411

See all PubMed Citations (3)

Details of each submission

From Invitae, SCV003441332.2

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

Description

This sequence change creates a premature translational stop signal (p.Arg1071*) in the MPDZ gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MPDZ are known to be pathogenic (PMID: 23240096, 28556411). This variant is present in population databases (rs376078512, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with MPDZ-related conditions (PMID: 28556411). ClinVar contains an entry for this variant (Variation ID: 548149). For these reasons, this variant has been classified as Pathogenic.

#	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: Feb 20, 2024

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