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NM_001371623.1(TCOF1):c.1091C>T (p.Ala364Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 5, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003275438.2

Allele description [Variation Report for NM_001371623.1(TCOF1):c.1091C>T (p.Ala364Val)]

NM_001371623.1(TCOF1):c.1091C>T (p.Ala364Val)

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.1091C>T (p.Ala364Val)
HGVS:
  • NC_000005.10:g.150374624C>T
  • NG_011341.1:g.21986C>T
  • NM_000356.4:c.860C>T
  • NM_001008657.3:c.1091C>T
  • NM_001135243.2:c.1091C>T
  • NM_001135244.2:c.1091C>T
  • NM_001135245.2:c.860C>T
  • NM_001195141.2:c.1091C>T
  • NM_001371623.1:c.1091C>TMANE SELECT
  • NP_000347.2:p.Ala287Val
  • NP_001008657.1:p.Ala364Val
  • NP_001128715.1:p.Ala364Val
  • NP_001128716.1:p.Ala364Val
  • NP_001128717.1:p.Ala287Val
  • NP_001182070.1:p.Ala364Val
  • NP_001358552.1:p.Ala364Val
  • NC_000005.9:g.149754187C>T
  • NM_001135243.1:c.1091C>T
Protein change:
A287V
Molecular consequence:
  • NM_000356.4:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001008657.3:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001135243.2:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001135244.2:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001135245.2:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195141.2:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371623.1:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003960882Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 5, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003960882.2

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

Description

The c.1091C>T (p.A364V) alteration is located in exon 9 (coding exon 9) of the TCOF1 gene. This alteration results from a C to T substitution at nucleotide position 1091, causing the alanine (A) at amino acid position 364 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024