NM_001386140.1(MTTP):c.373del (p.Leu125fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 6, 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:: RCV001386899.3

Allele description [Variation Report for NM_001386140.1(MTTP):c.373del (p.Leu125fs)]

NM_001386140.1(MTTP):c.373del (p.Leu125fs)

Gene:

MTTP:microsomal triglyceride transfer protein [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

4q23

Genomic location:

Preferred name:

NM_001386140.1(MTTP):c.373del (p.Leu125fs)

HGVS:

NC_000004.12:g.99583497del
NG_011469.1:g.24415del
NM_000253.4:c.373del
NM_001300785.2:c.124del
NM_001386140.1:c.373delMANE SELECT
NP_000244.2:p.Leu125fs
NP_001287714.2:p.Leu42fs
NP_001373069.1:p.Leu125fs
NC_000004.11:g.100504653del
NC_000004.11:g.100504654del

Protein change:

L125fs

Links:

dbSNP: rs2110212747

NCBI 1000 Genomes Browser:

rs2110212747

Molecular consequence:

NM_000253.4:c.373del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001300785.2:c.124del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001386140.1:c.373del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001587298	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jul 6, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 8533758, 9671739, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001587298

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jul 6, 2022)

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

Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia.

Narcisi TM, Shoulders CC, Chester SA, Read J, Brett DJ, Harrison GB, Grantham TT, Fox MF, Povey S, de Bruin TW, et al.

Am J Hum Genet. 1995 Dec;57(6):1298-310.

PubMed [citation]

PMID:: 8533758
PMCID:: PMC1801399

Knockout of the abetalipoproteinemia gene in mice: reduced lipoprotein secretion in heterozygotes and embryonic lethality in homozygotes.

Raabe M, Flynn LM, Zlot CH, Wong JS, Véniant MM, Hamilton RL, Young SG.

Proc Natl Acad Sci U S A. 1998 Jul 21;95(15):8686-91.

PubMed [citation]

PMID:: 9671739
PMCID:: PMC21137

See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001587298.3

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

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1073794). This variant has not been reported in the literature in individuals affected with MTTP-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu125Phefs*3) in the MTTP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MTTP are known to be pathogenic (PMID: 8533758, 9671739).

#	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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