NM_080680.2(COL11A2):c.3174G>A (p.Pro1058=) AND not specified

Clinical significance:Benign (Last evaluated: Mar 13, 2013)

Review status:(1/4)1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000039835.1

Allele description [Variation Report for NM_080680.2(COL11A2):c.3174G>A (p.Pro1058=)]

Gene:
COL11A2:collagen, type XI, alpha 2 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.32
Genomic location:
Preferred name:
NM_080680.2(COL11A2):c.3174G>A (p.Pro1058=)
HGVS:
  • NC_000006.12:g.33171551C>T
  • NG_011589.1:g.25918G>A
  • NM_080680.2:c.3174G>A
  • NP_542411.2:p.Pro1058=
  • NC_000006.11:g.33139328C>T
  • c.3174G>A
Links:
dbSNP: 1799910
GMAF:
0.4582(T), 1799910
NCBI 1000 Genomes Browser:
rs1799910
Allele Frequency:
0.5118, GO-ESP
Molecular consequence:
  • NM_080680.2:c.3174G>A - synonymous variant - [Sequence Ontology: SO:0001588]
Observations:
74

Condition(s)

Name:
not specified
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000063526Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicineclassified by single submitterno known pathogenicity
(Mar 13, 2013)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot provided74not providednot providednot providedclinical testing

Details of each submission

From Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine, SCV000063526.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Pro1058Pro in Exon 43 of COL11A2: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 45.2% (3170/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs1799910).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providedassert pathogenicitynot providednot provided74not provided

Last Updated: Sep 22, 2014

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