U.S. flag

An official website of the United States government

NM_000088.4(COL1A1):c.579del (p.Gly194fs) 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:
RCV001526512.2

Allele description [Variation Report for NM_000088.4(COL1A1):c.579del (p.Gly194fs)]

NM_000088.4(COL1A1):c.579del (p.Gly194fs)

Gene:
COL1A1:collagen type I alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.33
Genomic location:
Preferred name:
NM_000088.4(COL1A1):c.579del (p.Gly194fs)
HGVS:
  • NC_000017.11:g.50198170del
  • NG_007400.1:g.8470del
  • NM_000088.4:c.579delMANE SELECT
  • NP_000079.2:p.Gly194fs
  • NP_000079.2:p.Gly194fs
  • LRG_1t1:c.579del
  • LRG_1:g.8470del
  • LRG_1p1:p.Gly194fs
  • NC_000017.10:g.48275531del
  • NM_000088.3:c.579del
  • NM_000088.3:c.579delT
  • p.Gly194ValfsX71
Protein change:
G194fs
Links:
dbSNP: rs72667023
NCBI 1000 Genomes Browser:
rs72667023
Molecular consequence:
  • NM_000088.4:c.579del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001736932Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jun 14, 2021) 		germlinenot provided

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providednot 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, SCV001736932.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1Bloodnot provided1not providednot providednot provided

Last Updated: Sep 29, 2024