NM_000253.3(MTTP):c.730C>G (p.Gln244Glu) AND Abetalipoproteinaemia

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

Germline classification:: Benign (2 submissions)
Last evaluated:: Jan 13, 2018
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000625114.3

Allele description

NM_000253.3(MTTP):c.730C>G (p.Gln244Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4q23

Genomic location:

Preferred name:

NM_000253.3(MTTP):c.730C>G (p.Gln244Glu)

HGVS:

NC_000004.12:g.99591762C>G
NG_011469.1:g.32680C>G
NM_000253.3:c.730C>G
NM_001300785.1:c.811C>G
NP_000244.2:p.Gln244Glu
NP_001287714.1:p.Gln271Glu
NC_000004.11:g.100512919C>G
NM_000253.2:c.730C>G
P55157:p.Gln244Glu

Protein change:

Q244E

Links:

UniProtKB: P55157#VAR_014018; dbSNP: rs17599091

NCBI 1000 Genomes Browser:

rs17599091

Molecular consequence:

NM_000253.3:c.730C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001300785.1:c.811C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Abetalipoproteinaemia (ABL)
Synonyms:: MTP DEFICIENCY; Abetalipoproteinemia; Bassen Kornzweig syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008692; MedGen: C0000744; Orphanet: 14; OMIM: 200100; Human Phenotype Ontology: HP:0008181

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000446711	Illumina Clinical Services Laboratory,Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Benign (Jan 13, 2018)	germline	clinical testing	Citation Link,
SCV000743811	Genome Diagnostics Laboratory,University Medical Center Utrecht - VKGL Data-share Consensus	criteria provided, single submitter (ACGS Guidelines, 2013)	Benign (Dec 9, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000446711

Illumina Clinical Services Laboratory,Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Benign
(Jan 13, 2018)

germline

clinical testing

Citation Link,

SCV000743811

Genome Diagnostics Laboratory,University Medical Center Utrecht - VKGL Data-share Consensus

criteria provided, single submitter

(ACGS Guidelines, 2013)

Benign
(Dec 9, 2015)

germline

clinical testing

Citation Link

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
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000446711.3

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

Description

This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.

#	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

From Genome Diagnostics Laboratory,University Medical Center Utrecht - VKGL Data-share Consensus, SCV000743811.1

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

#	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: Jun 15, 2021

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