U.S. flag

An official website of the United States government

NM_000088.4(COL1A1):c.*20G>C AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 21, 2017
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:
RCV000579244.2

Allele description [Variation Report for NM_000088.4(COL1A1):c.*20G>C]

NM_000088.4(COL1A1):c.*20G>C

Gene:
COL1A1:collagen type I alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.33
Genomic location:
Preferred name:
NM_000088.4(COL1A1):c.*20G>C
HGVS:
  • NC_000017.11:g.50185482C>G
  • NG_007400.1:g.21158G>C
  • NM_000088.4:c.*20G>CMANE SELECT
  • LRG_1t1:c.*20G>C
  • LRG_1:g.21158G>C
  • NC_000017.10:g.48262843C>G
  • NM_000088.3:c.*20G>C
Links:
dbSNP: rs199806909
NCBI 1000 Genomes Browser:
rs199806909
Molecular consequence:
  • NM_000088.4:c.*20G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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
SCV000681273GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Dec 21, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000681273.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.*20G>C variant alters the conserved Guanine nucleotide 20 base pairs downstream of the translational stop codon in the 3’ untranslated region (3’UTR) of the COL1A1 gene. This variant has not, to our knowledge, been published in the literature as either a pathogenic variant or a benign polymorphism. Variants in the 3′ UTR may disrupt key functional elements such as polyadenylation signal, microribonucleic acid target sites and AU‐rich elements that could lead to production of a nonfunctional protein or reduced amounts of functional protein. However, no pathogenic variants have been described in the 3’ UTR of COL1A1 (Stenson et al., 2014). In the absence of RNA or functional studies, the actual effect of this variant is unknown. Based on currently available information, we consider COL1A1 c.*20G>C to be a variant of uncertain significance.

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

Last Updated: Jun 23, 2024