NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn) AND not provided

Clinical significance:Benign/Likely benign (Last evaluated: Oct 1, 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:
RCV000488399.11

Allele description [Variation Report for NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn)]

NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn)

Gene:
PLOD1:procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.22
Genomic location:
Preferred name:
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn)
HGVS:
  • NC_000001.11:g.11952711G>T
  • NG_008159.1:g.23023G>T
  • NM_000302.4:c.555G>TMANE SELECT
  • NM_001316320.2:c.696G>T
  • NP_000293.2:p.Lys185Asn
  • NP_001303249.1:p.Lys232Asn
  • NC_000001.10:g.12012768G>T
  • NM_000302.3:c.555G>T
Protein change:
K185N
Links:
dbSNP: rs142978362
NCBI 1000 Genomes Browser:
rs142978362
Molecular consequence:
  • NM_000302.4:c.555G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316320.2:c.696G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
8

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000514183GeneDxcriteria provided, single submitter
Benign
(Oct 8, 2019)
germlineclinical testing

Citation Link,

SCV000574744CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely benign
(Oct 1, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes8not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000514183.5

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

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV000574744.12

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided8not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided8not providednot providednot provided

Last Updated: Nov 27, 2021

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