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NM_001378778.1(MPDZ):c.1338_1341dup (p.Leu448fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 9, 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:
RCV001380393.4

Allele description [Variation Report for NM_001378778.1(MPDZ):c.1338_1341dup (p.Leu448fs)]

NM_001378778.1(MPDZ):c.1338_1341dup (p.Leu448fs)

Gene:
MPDZ:multiple PDZ domain crumbs cell polarity complex component [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
9p23
Genomic location:
Preferred name:
NM_001378778.1(MPDZ):c.1338_1341dup (p.Leu448fs)
HGVS:
  • NC_000009.12:g.13206050_13206053dup
  • NG_042810.1:g.78513_78516dup
  • NM_001261406.2:c.1338_1341dup
  • NM_001261407.2:c.1338_1341dup
  • NM_001330637.2:c.1338_1341dup
  • NM_001375413.1:c.1338_1341dup
  • NM_001375416.1:c.1338_1341dup
  • NM_001375417.1:c.1338_1341dup
  • NM_001375418.1:c.1338_1341dup
  • NM_001375419.1:c.1338_1341dup
  • NM_001375420.1:c.1338_1341dup
  • NM_001375421.1:c.1338_1341dup
  • NM_001375422.1:c.1338_1341dup
  • NM_001375423.1:c.1338_1341dup
  • NM_001375424.1:c.1338_1341dup
  • NM_001375425.1:c.1338_1341dup
  • NM_001375426.1:c.1338_1341dup
  • NM_001375427.1:c.1338_1341dup
  • NM_001378778.1:c.1338_1341dupMANE SELECT
  • NM_003829.5:c.1338_1341dup
  • NP_001248335.1:p.Leu448fs
  • NP_001248336.1:p.Leu448fs
  • NP_001317566.1:p.Leu448fs
  • NP_001362342.1:p.Leu448fs
  • NP_001362345.1:p.Leu448fs
  • NP_001362346.1:p.Leu448fs
  • NP_001362347.1:p.Leu448fs
  • NP_001362348.1:p.Leu448fs
  • NP_001362349.1:p.Leu448fs
  • NP_001362350.1:p.Leu448fs
  • NP_001362351.1:p.Leu448fs
  • NP_001362352.1:p.Leu448fs
  • NP_001362353.1:p.Leu448fs
  • NP_001362354.1:p.Leu448fs
  • NP_001362355.1:p.Leu448fs
  • NP_001362356.1:p.Leu448fs
  • NP_001365707.1:p.Leu448fs
  • NP_003820.2:p.Leu448fs
  • NC_000009.11:g.13206047_13206048insTACC
  • NC_000009.11:g.13206049_13206052dup
  • NM_003829.4:c.1338_1341dup
Protein change:
L448fs
Links:
dbSNP: rs2135678282
NCBI 1000 Genomes Browser:
rs2135678282
Molecular consequence:
  • NM_001261406.2:c.1338_1341dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001261407.2:c.1338_1341dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001330637.2:c.1338_1341dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001375413.1:c.1338_1341dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001375416.1:c.1338_1341dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001375417.1:c.1338_1341dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001375418.1:c.1338_1341dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001375419.1:c.1338_1341dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001375420.1:c.1338_1341dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001375421.1:c.1338_1341dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001375422.1:c.1338_1341dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001375423.1:c.1338_1341dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001375424.1:c.1338_1341dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001375425.1:c.1338_1341dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001375426.1:c.1338_1341dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001375427.1:c.1338_1341dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001378778.1:c.1338_1341dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003829.5:c.1338_1341dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001578453Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Aug 9, 2022) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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, SCV001578453.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1068747). This variant has not been reported in the literature in individuals affected with MPDZ-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu448Glyfs*40) 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).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 16, 2024