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NM_001371623.1(TCOF1):c.1322C>T (p.Ala441Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 12, 2021
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:
RCV003015339.2

Allele description [Variation Report for NM_001371623.1(TCOF1):c.1322C>T (p.Ala441Val)]

NM_001371623.1(TCOF1):c.1322C>T (p.Ala441Val)

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.1322C>T (p.Ala441Val)
HGVS:
  • NC_000005.10:g.150374997C>T
  • NG_011341.1:g.22359C>T
  • NM_000356.4:c.1091C>T
  • NM_001008657.3:c.1322C>T
  • NM_001135243.1:c.1322C>T
  • NM_001135243.2:c.1322C>T
  • NM_001135244.2:c.1322C>T
  • NM_001135245.2:c.1091C>T
  • NM_001195141.2:c.1322C>T
  • NM_001371623.1:c.1322C>TMANE SELECT
  • NP_000347.2:p.Ala364Val
  • NP_001008657.1:p.Ala441Val
  • NP_001128715.1:p.Ala441Val
  • NP_001128716.1:p.Ala441Val
  • NP_001128717.1:p.Ala364Val
  • NP_001182070.1:p.Ala441Val
  • NP_001358552.1:p.Ala441Val
  • NC_000005.9:g.149754560C>T
Protein change:
A364V
Links:
dbSNP: rs540402926
NCBI 1000 Genomes Browser:
rs540402926
Molecular consequence:
  • NM_000356.4:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001008657.3:c.1322C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001135243.2:c.1322C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001135244.2:c.1322C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001135245.2:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195141.2:c.1322C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371623.1:c.1322C>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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003750237Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 12, 2021) 		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, SCV003750237.2

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

Description

The c.1322C>T (p.A441V) alteration is located in exon 10 (coding exon 10) of the TCOF1 gene. This alteration results from a C to T substitution at nucleotide position 1322, causing the alanine (A) at amino acid position 441 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: Sep 29, 2024