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NM_001394755.1(TBKBP1):c.830C>T (p.Ser277Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 20, 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:
RCV004332823.1

Allele description [Variation Report for NM_001394755.1(TBKBP1):c.830C>T (p.Ser277Leu)]

NM_001394755.1(TBKBP1):c.830C>T (p.Ser277Leu)

Gene:
TBKBP1:TBK1 binding protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.32
Genomic location:
Preferred name:
NM_001394755.1(TBKBP1):c.830C>T (p.Ser277Leu)
HGVS:
  • NC_000017.11:g.47699655C>T
  • NM_001394755.1:c.830C>TMANE SELECT
  • NM_001394756.1:c.830C>T
  • NM_014726.2:c.830C>T
  • NP_001381684.1:p.Ser277Leu
  • NP_001381685.1:p.Ser277Leu
  • NP_055541.1:p.Ser277Leu
  • NC_000017.10:g.45777021C>T
Protein change:
S277L
Molecular consequence:
  • NM_001394755.1:c.830C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394756.1:c.830C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014726.2:c.830C>T - 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
SCV004009045Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 20, 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, SCV004009045.2

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

Description

The c.830C>T (p.S277L) alteration is located in exon 6 (coding exon 6) of the TBKBP1 gene. This alteration results from a C to T substitution at nucleotide position 830, causing the serine (S) at amino acid position 277 to be replaced by a leucine (L). 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: Nov 10, 2024