U.S. flag

An official website of the United States government

NM_001079802.2(FKTN):c.41C>T (p.Thr14Met) AND not provided

Germline classification:
Uncertain significance (3 submissions)
Last evaluated:
Aug 4, 2020
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000079435.23

Allele description

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]
Observations:
4

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000111314Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)		Uncertain significance
(Jul 27, 2018) 		germlineclinical testing

Citation Link,

SCV001716025Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 15, 2019) 		germlineclinical testing

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

SCV003832672Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Aug 4, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown4not 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 Eurofins Ntd Llc (ga), SCV000111314.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV001716025.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Revvity Omics, Revvity, SCV003832672.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 11, 2024