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NM_144705.4(TEKT4):c.353T>C (p.Leu118Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 5, 2024
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:
RCV004675826.1

Allele description [Variation Report for NM_144705.4(TEKT4):c.353T>C (p.Leu118Ser)]

NM_144705.4(TEKT4):c.353T>C (p.Leu118Ser)

Genes:
TEKT4:tektin 4 [Gene - HGNC]
LOC442028:uncharacterized LOC442028 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
2q11.1
Genomic location:
Preferred name:
NM_144705.4(TEKT4):c.353T>C (p.Leu118Ser)
HGVS:
  • NC_000002.12:g.94871932T>C
  • NM_001286559.2:c.-897T>C
  • NM_144705.4:c.353T>CMANE SELECT
  • NP_653306.1:p.Leu118Ser
  • NC_000002.11:g.95537677T>C
  • NM_144705.2:c.353T>C
Protein change:
L118S
Molecular consequence:
  • NM_001286559.2:c.-897T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_144705.4:c.353T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005167910Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 5, 2024) 		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, SCV005167910.1

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

Description

The c.353T>C (p.L118S) alteration is located in exon 1 (coding exon 1) of the TEKT4 gene. This alteration results from a T to C substitution at nucleotide position 353, causing the leucine (L) at amino acid position 118 to be replaced by a serine (S). 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: Aug 11, 2024