U.S. flag

An official website of the United States government

NM_000088.4(COL1A1):c.1452del (p.Gly485fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 26, 2018
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:
RCV000733766.4

Allele description [Variation Report for NM_000088.4(COL1A1):c.1452del (p.Gly485fs)]

NM_000088.4(COL1A1):c.1452del (p.Gly485fs)

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.1452del (p.Gly485fs)
HGVS:
  • NC_000017.11:g.50194730del
  • NG_007400.1:g.11910del
  • NM_000088.4:c.1452delMANE SELECT
  • NP_000079.2:p.Gly485fs
  • LRG_1:g.11910del
  • NC_000017.10:g.48272091del
Protein change:
G485fs
Links:
dbSNP: rs72648346
NCBI 1000 Genomes Browser:
rs72648346
Molecular consequence:
  • NM_000088.4:c.1452del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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
SCV000861863Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)		Pathogenic
(Jun 26, 2018) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV.

Ward LM, Lalic L, Roughley PJ, Glorieux FH.

Hum Mutat. 2001 May;17(5):434.

PubMed [citation]
PMID:
11317364

Details of each submission

From Eurofins Ntd Llc (ga), SCV000861863.1

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

Last Updated: Sep 29, 2024