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NM_001903.5(CTNNA1):c.577A>T (p.Lys193Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 19, 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:
RCV003164924.2

Allele description [Variation Report for NM_001903.5(CTNNA1):c.577A>T (p.Lys193Ter)]

NM_001903.5(CTNNA1):c.577A>T (p.Lys193Ter)

Gene:
CTNNA1:catenin alpha 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q31.2
Genomic location:
Preferred name:
NM_001903.5(CTNNA1):c.577A>T (p.Lys193Ter)
HGVS:
  • NC_000005.10:g.138812291A>T
  • NG_047029.1:g.63896A>T
  • NM_001290307.3:c.577A>T
  • NM_001290309.3:c.268A>T
  • NM_001290310.3:c.208A>T
  • NM_001323982.2:c.577A>T
  • NM_001323983.1:c.577A>T
  • NM_001323984.2:c.577A>T
  • NM_001323985.2:c.577A>T
  • NM_001323986.2:c.577A>T
  • NM_001903.5:c.577A>TMANE SELECT
  • NP_001277236.1:p.Lys193Ter
  • NP_001277238.1:p.Lys90Ter
  • NP_001277239.1:p.Lys70Ter
  • NP_001310911.1:p.Lys193Ter
  • NP_001310912.1:p.Lys193Ter
  • NP_001310913.1:p.Lys193Ter
  • NP_001310914.1:p.Lys193Ter
  • NP_001310915.1:p.Lys193Ter
  • NP_001894.2:p.Lys193Ter
  • NC_000005.9:g.138147980A>T
  • NM_001903.2:c.577A>T
Protein change:
K193*
Molecular consequence:
  • NM_001290307.3:c.577A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001290309.3:c.268A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001290310.3:c.208A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001323982.2:c.577A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001323983.1:c.577A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001323984.2:c.577A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001323985.2:c.577A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001323986.2:c.577A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001903.5:c.577A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003856399Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 19, 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, SCV003856399.2

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

Description

The p.K193* variant (also known as c.577A>T), located in coding exon 4 of the CTNNA1 gene, results from an A to T substitution at nucleotide position 577. This changes the amino acid from a lysine to a stop codon within coding exon 4. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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

Last Updated: May 1, 2024