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NM_000088.4(COL1A1):c.1056+12dup AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 4, 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:
RCV001704631.1

Allele description [Variation Report for NM_000088.4(COL1A1):c.1056+12dup]

NM_000088.4(COL1A1):c.1056+12dup

Gene:
COL1A1:collagen type I alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q21.33
Genomic location:
Preferred name:
NM_000088.4(COL1A1):c.1056+12dup
HGVS:
  • NC_000017.11:g.50195916dup
  • NG_007400.1:g.10729dup
  • NM_000088.4:c.1056+12dupMANE SELECT
  • LRG_1:g.10729dup
  • NC_000017.10:g.48273271_48273272insG
  • NC_000017.10:g.48273277dup
  • NM_000088.3:c.1056+12dupC
Links:
dbSNP: rs766175536
NCBI 1000 Genomes Browser:
rs766175536
Molecular consequence:
  • NM_000088.4:c.1056+12dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000570544GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Jun 4, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000570544.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024