NM_000356.4(TCOF1):c.4061G>C (p.Gly1354Ala) AND not provided

Clinical significance:Benign (Last evaluated: Nov 14, 2018)

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:
RCV000993289.2

Allele description [Variation Report for NM_000356.4(TCOF1):c.4061G>C (p.Gly1354Ala)]

NM_000356.4(TCOF1):c.4061G>C (p.Gly1354Ala)

Gene:
TCOF1:treacle ribosome biogenesis factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q32
Genomic location:
Preferred name:
NM_000356.4(TCOF1):c.4061G>C (p.Gly1354Ala)
Other names:
NM_000356.3(TCOF1):c.4061G>C(p.Gly1354Ala); NM_001135243.1(TCOF1):c.4292G>C(p.Gly1431Ala); NM_001135244.1(TCOF1):c.4181G>C(p.Gly1394Ala); NM_001135245.1(TCOF1):c.4064G>C(p.Gly1355Ala); NM_001195141.1(TCOF1):c.4178G>C(p.Gly1393Ala)
HGVS:
  • NC_000005.10:g.150396792G>C
  • NG_011341.1:g.44154G>C
  • NM_000356.4:c.4061G>C
  • NM_001135243.1:c.4292G>C
  • NM_001135244.2:c.4181G>C
  • NM_001135245.2:c.4064G>C
  • NM_001195141.2:c.4178G>C
  • NP_000347.2:p.Gly1354Ala
  • NP_001128715.1:p.Gly1431Ala
  • NP_001128716.1:p.Gly1394Ala
  • NP_001128717.1:p.Gly1355Ala
  • NP_001182070.1:p.Gly1393Ala
  • NC_000005.9:g.149776355G>C
  • Q13428:p.Gly1431Ala
Protein change:
G1354A
Links:
UniProtKB: Q13428#VAR_061709; dbSNP: rs45491898
NCBI 1000 Genomes Browser:
rs45491898
Molecular consequence:
  • NM_000356.4:c.4061G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001135243.1:c.4292G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001135244.2:c.4181G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001135245.2:c.4064G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195141.2:c.4178G>C - 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
SCV001146132Athena Diagnostics Inccriteria provided, single submitter
Benign
(Nov 14, 2018)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV001885015GeneDxcriteria provided, single submitter
Benign
(Mar 3, 2015)
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

Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome.

Conte C, D'Apice MR, Rinaldi F, Gambardella S, Sangiuolo F, Novelli G.

BMC Med Genet. 2011 Sep 27;12:125. doi: 10.1186/1471-2350-12-125.

PubMed [citation]
PMID:
21951868
PMCID:
PMC3199234

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Athena Diagnostics Inc, SCV001146132.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV001885015.1

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

Last Updated: Sep 18, 2021

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