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NM_002218.5(ITIH4):c.2077+8G>A AND Hypercholesterolemia, susceptibility to

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 1, 2004
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000009609.5

Allele description [Variation Report for NM_002218.5(ITIH4):c.2077+8G>A]

NM_002218.5(ITIH4):c.2077+8G>A

Gene:
ITIH4:inter-alpha-trypsin inhibitor heavy chain 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.1
Genomic location:
Preferred name:
NM_002218.5(ITIH4):c.2077+8G>A
HGVS:
  • NC_000003.12:g.52819385C>T
  • NG_016006.2:g.16317G>A
  • NM_001166449.2:c.1987+8G>A
  • NM_002218.5:c.2077+8G>AMANE SELECT
  • NC_000003.11:g.52853401C>T
Nucleotide change:
IVS17, +8, C-T
Links:
OMIM: 600564.0001; dbSNP: rs3821831
NCBI 1000 Genomes Browser:
rs3821831
Molecular consequence:
  • NM_001166449.2:c.1987+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002218.5:c.2077+8G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Hypercholesterolemia, susceptibility to
Identifiers:
MedGen: C4016675

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000029827OMIM
no assertion criteria provided
Benign
(Jan 1, 2004) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Hamosh, A. Personal Communication. 2019. Baltimore, Md.

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Hypercholesterolemia associated with splice-junction variation of inter-alpha-trypsin inhibitor heavy chain 4 (ITIH4) gene.

Fujita Y, Ezura Y, Emi M, Sato K, Takada D, Iino Y, Katayama Y, Takahashi K, Kamimura K, Bujo H, Saito Y.

J Hum Genet. 2004;49(1):24-28. doi: 10.1007/s10038-003-0101-8. Epub 2003 Dec 6.

PubMed [citation]
PMID:
14661079

Details of each submission

From OMIM, SCV000029827.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

This variant, formerly titled HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO, has been reclassified based on a review of the gnomAD database by Hamosh (2019).

Fujita et al. (2004) reported an association between a C/T single nucleotide polymorphism (SNP) at position +8 in intron 17 of the ITIH4 gene and plasma total cholesterol levels in 351 adult individuals from an east-central area of Japan. Those who lacked the T allele had significantly higher plasma total cholesterol levels than the others who had the T allele. Of the 309 without the T allele, approximately 90% presented with hypercholesterolemia (see 143890), whereas only 10% were hypercholesterolemic among 42 individuals with the T allele. They interpreted the data as suggesting that genetic variation at the ITIH4 locus is a determinant of plasma cholesterol metabolism.

Hamosh (2019) found that this variant was present in heterozygous state in 82,160 of 282,140 alleles and in 13,332 homozygotes, at an allele frequency of 0.2912, in the gnomAD database (June 19, 2019).

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

Last Updated: Dec 24, 2023