NM_000356.4(TCOF1):c.4061G>C (p.Gly1354Ala) AND Treacher Collins syndrome 1

Clinical significance:Benign (Last evaluated: Oct 30, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000556892.3

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)

Name:
Treacher Collins syndrome 1 (TCS1)
Identifiers:
MONDO: MONDO:0007944; MedGen: CN119605; Orphanet: 861; OMIM: 154500

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000658957Invitaecriteria provided, single submitter
Benign
(Oct 30, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
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, SCV000658957.3

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

Last Updated: Sep 18, 2021

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