NM_001025295.3(IFITM5):c.-14C>T AND Postmenopausal osteoporosis

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 14, 2021
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:: RCV001526510.3

Allele description [Variation Report for NM_001025295.3(IFITM5):c.-14C>T]

NM_001025295.3(IFITM5):c.-14C>T

Genes:

PGGHG:protein-glucosylgalactosylhydroxylysine glucosidase [Gene - OMIM - HGNC]
IFITM5:interferon induced transmembrane protein 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.5

Genomic location:

Preferred name:

NM_001025295.3(IFITM5):c.-14C>T

HGVS:

NC_000011.10:g.299504G>A
NG_032892.1:g.5023C>T
NM_001025295.3:c.-14C>TMANE SELECT
NC_000011.9:g.299504G>A
NM_001025295.2:c.-14C>T

Nucleotide change:

-14C-T, 5-PRIME UTR

Links:

OMIM: 614757.0001; dbSNP: rs587776916

NCBI 1000 Genomes Browser:

rs587776916

Molecular consequence:

NM_001025295.3:c.-14C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Name:: Postmenopausal osteoporosis
Synonyms:: BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS; OSTEOPOROSIS, INVOLUTIONAL
Identifiers:: MONDO: MONDO:0008159; MedGen: C0029458

Recent activity

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INSIG2 insulin induced gene 2 [Homo sapiens]
INSIG2 insulin induced gene 2 [Homo sapiens]
Gene ID:51141

Gene
(INSIG2[Gene Name]) AND Homo sapiens[Organism] AND (alive[prop]) (1)
Gene
BNIP3 BCL2 interacting protein 3 [Homo sapiens]
BNIP3 BCL2 interacting protein 3 [Homo sapiens]
Gene ID:664

Gene
(BNIP3[Gene Name]) AND Homo sapiens[Organism] AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001736930	Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin See additional submitters CUBI - Core Unit Bioinformatics, Berlin Institute of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 14, 2021)	germline	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001736930

Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 14, 2021)

germline

not provided

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	not provided	not provided

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, SCV001736930.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	Blood	not provided		1	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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