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NM_000090.4(COL3A1):c.1921C>G (p.Gln641Glu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 11, 2012
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:
RCV000181089.2

Allele description [Variation Report for NM_000090.4(COL3A1):c.1921C>G (p.Gln641Glu)]

NM_000090.4(COL3A1):c.1921C>G (p.Gln641Glu)

Gene:
COL3A1:collagen type III alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q32.2
Genomic location:
Preferred name:
NM_000090.4(COL3A1):c.1921C>G (p.Gln641Glu)
Other names:
p.Q641E:CAA>GAA
HGVS:
  • NC_000002.12:g.188997751C>G
  • NG_007404.1:g.28379C>G
  • NM_000090.4:c.1921C>GMANE SELECT
  • NP_000081.1:p.Gln641Glu
  • NP_000081.2:p.Gln641Glu
  • LRG_3t1:c.1921C>G
  • LRG_3:g.28379C>G
  • LRG_3p1:p.Gln641Glu
  • NC_000002.11:g.189862477C>G
  • NM_000090.3:c.1921C>G
Protein change:
Q641E
Links:
dbSNP: rs794728048
NCBI 1000 Genomes Browser:
rs794728048
Molecular consequence:
  • NM_000090.4:c.1921C>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000233365GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Dec 11, 2012) 		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, SCV000233365.10

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

Description

p.Gln641Glu (CAA>GAA): c.1921 C>G in exon 27 of the COL3A1 gene (NM_000090.3).The Gln641Glu variant in the COL3A1 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. The Gln641Glu vas was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project reports, indicating it is not a common benign variant in these populations. Gln641Glu results in a semi-conservative amino acid substitution of a neutral, polar Glutamine with a negatively charged Glutamic acid at a position that is conserved until chicken. Mutations in nearby residues located in the Gly-X-Y repeat region (Gly636Arg, Gly639Val, Gly642Asp) have been reported in association with Ehlers Danlos syndrome, supporting the functional importance of this region of the protein. With the clinical and molecular information available at this time, we cannot definitively determine if Gln641Glu is a disease-causing mutation or a rare benign variant. The variant is found in TAAD panel(s).

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

Last Updated: Jul 15, 2024