NM_000384.3(APOB):c.1223T>C (p.Ile408Thr) AND Hypobetalipoproteinemia, familial, 1

Clinical significance:Likely benign (Last evaluated: May 14, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000327915.2

Allele description [Variation Report for NM_000384.3(APOB):c.1223T>C (p.Ile408Thr)]

NM_000384.3(APOB):c.1223T>C (p.Ile408Thr)

Gene:
APOB:apolipoprotein B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p24.1
Genomic location:
Preferred name:
NM_000384.3(APOB):c.1223T>C (p.Ile408Thr)
HGVS:
  • NC_000002.12:g.21032483A>G
  • NG_011793.1:g.16591T>C
  • NM_000384.3:c.1223T>CMANE SELECT
  • NP_000375.3:p.Ile408Thr
  • NC_000002.11:g.21255355A>G
  • NM_000384.2:c.1223T>C
Protein change:
I408T
Links:
Molecular consequence:
  • NM_000384.3:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypobetalipoproteinemia, familial, 1 (FHBL1)
Synonyms:
HYPOBETALIPOPROTEINEMIA, FAMILIAL
Identifiers:
MONDO: MONDO:0014252; MedGen: C4551990; OMIM: 615558

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000427160Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(May 14, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000427160.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

Last Updated: Nov 27, 2021

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