NM_001844.5(COL2A1):c.2854C>A (p.Pro952Thr) AND not provided

Clinical significance:Benign/Likely benign (Last evaluated: Nov 20, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000928529.6

Allele description [Variation Report for NM_001844.5(COL2A1):c.2854C>A (p.Pro952Thr)]

NM_001844.5(COL2A1):c.2854C>A (p.Pro952Thr)

Gene:
COL2A1:collagen type II alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.11
Genomic location:
Preferred name:
NM_001844.5(COL2A1):c.2854C>A (p.Pro952Thr)
HGVS:
  • NC_000012.12:g.47978638G>T
  • NG_008072.1:g.30865C>A
  • NM_001844.5:c.2854C>AMANE SELECT
  • NM_033150.3:c.2647C>A
  • NP_001835.3:p.Pro952Thr
  • NP_149162.2:p.Pro883Thr
  • NC_000012.11:g.48372421G>T
  • NM_001844.4:c.2854C>A
Protein change:
P883T
Links:
dbSNP: rs140740708
NCBI 1000 Genomes Browser:
rs140740708
Molecular consequence:
  • NM_001844.5:c.2854C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033150.3:c.2647C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001074140Invitaecriteria provided, single submitter
Benign
(Nov 20, 2020)
germlineclinical testing

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

SCV001825593GeneDxcriteria provided, single submitter
Likely benign
(Aug 26, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001074140.3

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

From GeneDx, SCV001825593.1

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

Description

This variant is associated with the following publications: (PMID: 28738883)

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

Last Updated: Jan 8, 2022

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