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NM_001079802.2(FKTN):c.41C>T (p.Thr14Met) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 29, 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:
RCV004019537.2

Allele description [Variation Report for NM_001079802.2(FKTN):c.41C>T (p.Thr14Met)]

NM_001079802.2(FKTN):c.41C>T (p.Thr14Met)

Gene:
FKTN:fukutin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q31.2
Genomic location:
Preferred name:
NM_001079802.2(FKTN):c.41C>T (p.Thr14Met)
HGVS:
  • NC_000009.12:g.105575073C>T
  • NG_008754.1:g.21944C>T
  • NM_001079802.2:c.41C>TMANE SELECT
  • NM_001198963.2:c.41C>T
  • NM_001351496.2:c.41C>T
  • NM_001351497.2:c.-127C>T
  • NM_001351498.2:c.41C>T
  • NM_001351499.2:c.-474C>T
  • NM_001351500.2:c.-474C>T
  • NM_001351501.2:c.-474C>T
  • NM_001351502.2:c.-474C>T
  • NM_006731.2:c.41C>T
  • NP_001073270.1:p.Thr14Met
  • NP_001073270.1:p.Thr14Met
  • NP_001185892.1:p.Thr14Met
  • NP_001338425.1:p.Thr14Met
  • NP_001338427.1:p.Thr14Met
  • NP_006722.2:p.Thr14Met
  • LRG_434t1:c.41C>T
  • LRG_434t2:c.41C>T
  • LRG_434:g.21944C>T
  • LRG_434p1:p.Thr14Met
  • LRG_434p2:p.Thr14Met
  • NC_000009.11:g.108337354C>T
  • NM_001079802.1:c.41C>T
  • NR_147213.2:n.256C>T
  • NR_147214.2:n.164C>T
Protein change:
T14M
Links:
dbSNP: rs149033995
NCBI 1000 Genomes Browser:
rs149033995
Molecular consequence:
  • NM_001351497.2:c.-127C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351499.2:c.-474C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351500.2:c.-474C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351501.2:c.-474C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351502.2:c.-474C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001079802.2:c.41C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001198963.2:c.41C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351496.2:c.41C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351498.2:c.41C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006731.2:c.41C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_147213.2:n.256C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147214.2:n.164C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004871083Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 29, 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, SCV004871083.2

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

Description

The c.41C>T (p.T14M) alteration is located in exon 3 (coding exon 1) of the FKTN gene. This alteration results from a C to T substitution at nucleotide position 41, causing the threonine (T) at amino acid position 14 to be replaced by a methionine (M). 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: Dec 7, 2024