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NM_005422.4(TECTA):c.5243G>A (p.Ser1748Asn) AND TECTA-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 3, 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:
RCV003408457.4

Allele description [Variation Report for NM_005422.4(TECTA):c.5243G>A (p.Ser1748Asn)]

NM_005422.4(TECTA):c.5243G>A (p.Ser1748Asn)

Genes:
TBCEL-TECTA:TBCEL-TECTA readthrough [Gene - HGNC]
TECTA:tectorin alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_005422.4(TECTA):c.5243G>A (p.Ser1748Asn)
HGVS:
  • NC_000011.10:g.121162341G>A
  • NG_011633.1:g.64676G>A
  • NM_001378761.1:c.6185G>A
  • NM_005422.4:c.5243G>AMANE SELECT
  • NP_001365690.1:p.Ser2062Asn
  • NP_005413.2:p.Ser1748Asn
  • NC_000011.9:g.121033050G>A
  • NM_005422.2:c.5243G>A
Protein change:
S1748N
Molecular consequence:
  • NM_001378761.1:c.6185G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005422.4:c.5243G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
TECTA-related disorder
Synonyms:
TECTA-related condition
Identifiers:

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV004112263PreventionGenetics, part of Exact Sciences
    criteria provided, single submitter

    (ACMG Guidelines, 2015)    		Uncertain significance
    (May 3, 2023)     		germlineclinical testing

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

    Help

    Summary from all submissions

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

    Citations

    PubMed

    Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

    Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

    Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

    PubMed [citation]
    PMID:
    25741868
    PMCID:
    PMC4544753

    Details of each submission

    From PreventionGenetics, part of Exact Sciences, SCV004112263.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testing PubMed (1)

    Description

    The TECTA c.5243G>A variant is predicted to result in the amino acid substitution p.Ser1748Asn. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

    Last Updated: Sep 1, 2024