NM_001844.5(COL2A1):c.2831C>T (p.Pro944Leu) AND not specified

Clinical significance:Likely benign (Last evaluated: Jun 8, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000508472.2

Allele description [Variation Report for NM_001844.5(COL2A1):c.2831C>T (p.Pro944Leu)]

NM_001844.5(COL2A1):c.2831C>T (p.Pro944Leu)

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.2831C>T (p.Pro944Leu)
HGVS:
  • NC_000012.12:g.47978661G>A
  • NG_008072.1:g.30842C>T
  • NM_001844.5:c.2831C>TMANE SELECT
  • NM_033150.3:c.2624C>T
  • NP_001835.3:p.Pro944Leu
  • NP_149162.2:p.Pro875Leu
  • NC_000012.11:g.48372444G>A
  • NM_001844.4:c.2831C>T
Protein change:
P875L
Links:
dbSNP: rs140368756
NCBI 1000 Genomes Browser:
rs140368756
Molecular consequence:
  • NM_001844.5:c.2831C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033150.3:c.2624C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000709249EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely benign
(Jun 8, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000709249.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Aug 27, 2021

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