NM_001371623.1(TCOF1):c.2762C>T (p.Pro921Leu) AND Treacher Collins syndrome 1

Clinical significance:Benign (Last evaluated: Dec 31, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000190974.2

Allele description [Variation Report for NM_001371623.1(TCOF1):c.2762C>T (p.Pro921Leu)]

NM_001371623.1(TCOF1):c.2762C>T (p.Pro921Leu)

Gene:
TCOF1:treacle ribosome biogenesis factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q32
Genomic location:
Preferred name:
NM_001371623.1(TCOF1):c.2762C>T (p.Pro921Leu)
HGVS:
  • NC_000005.10:g.150379635C>T
  • NG_011341.1:g.26997C>T
  • NM_000356.4:c.2531C>T
  • NM_001008657.3:c.2762C>T
  • NM_001135243.1:c.2762C>T
  • NM_001135243.2:c.2762C>T
  • NM_001135244.2:c.2762C>T
  • NM_001135245.2:c.2531C>T
  • NM_001195141.2:c.2762C>T
  • NM_001371623.1:c.2762C>TMANE SELECT
  • NP_000347.2:p.Pro844Leu
  • NP_001008657.1:p.Pro921Leu
  • NP_001128715.1:p.Pro921Leu
  • NP_001128715.1:p.Pro921Leu
  • NP_001128716.1:p.Pro921Leu
  • NP_001128717.1:p.Pro844Leu
  • NP_001182070.1:p.Pro921Leu
  • NP_001358552.1:p.Pro921Leu
  • NC_000005.9:g.149759198C>T
  • NM_001135244.1:c.2762C>T
Protein change:
P844L
Links:
dbSNP: rs150515843
NCBI 1000 Genomes Browser:
rs150515843
Molecular consequence:
  • NM_000356.4:c.2531C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001008657.3:c.2762C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001135243.1:c.2762C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001135243.2:c.2762C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001135244.2:c.2762C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001135245.2:c.2531C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195141.2:c.2762C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371623.1:c.2762C>T - 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
SCV000245861Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trustno assertion criteria providedUnknown significancesomaticnot provided

SCV001012399Invitaecriteria provided, single submitter
Benign
(Dec 31, 2019)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot providednot providednot providednot provided1not providednot provided
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 Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust, SCV000245861.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided

Description

Converted during submission to Uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot provided1not providednot providednot providednot providednot providednot provided

From Invitae, SCV001012399.2

#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: Nov 27, 2021

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