NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Oct 20, 2015)

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:
RCV000175225.2

Allele description [Variation Report for NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr)]

NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr)

Genes:
TRIM59-IFT80:TRIM59-IFT80 protein [Gene]
IFT80:intraflagellar transport 80 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q25.33
Genomic location:
Preferred name:
NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr)
HGVS:
  • NC_000003.12:g.160277643C>T
  • NG_022932.1:g.126890G>A
  • NM_001190241.2:c.1453G>A
  • NM_001190242.2:c.1453G>A
  • NM_020800.3:c.1864G>AMANE SELECT
  • NP_001177170.1:p.Ala485Thr
  • NP_001177171.1:p.Ala485Thr
  • NP_065851.1:p.Ala622Thr
  • NC_000003.11:g.159995431C>T
  • NM_001190241.1:c.1453G>A
  • NM_020800.2:c.1864G>A
  • NR_148401.1:n.2572G>A
  • NR_148402.1:n.4108G>A
  • NR_148403.1:n.4375G>A
Protein change:
A485T
Links:
dbSNP: rs138161346
NCBI 1000 Genomes Browser:
rs138161346
Molecular consequence:
  • NM_001190241.2:c.1453G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001190242.2:c.1453G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020800.3:c.1864G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148401.1:n.2572G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148402.1:n.4108G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148403.1:n.4375G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
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
SCV000226670EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Jun 1, 2015)
germlineclinical testing

Citation Link,

SCV000297059Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphiacriteria provided, single submitter
Likely benign
(Oct 20, 2015)
unknownclinical testing

DGD_Variant_Analysis_Guidelines.docx

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000226670.5

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

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia, SCV000297059.2

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

Last Updated: Nov 27, 2021

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