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NM_001079802.2(FKTN):c.-45G>T AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Dec 6, 2012
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:
RCV000079421.7

Allele description [Variation Report for NM_001079802.2(FKTN):c.-45G>T]

NM_001079802.2(FKTN):c.-45G>T

Gene:
FKTN:fukutin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q31.2
Genomic location:
Preferred name:
NM_001079802.2(FKTN):c.-45G>T
HGVS:
  • NC_000009.12:g.105574988G>T
  • NG_008754.1:g.21859G>T
  • NM_001079802.2:c.-45G>TMANE SELECT
  • NM_001198963.2:c.-45G>T
  • NM_001351496.2:c.-45G>T
  • NM_001351497.2:c.-212G>T
  • NM_001351498.2:c.-45G>T
  • NM_001351499.2:c.-559G>T
  • NM_001351500.2:c.-559G>T
  • NM_001351501.2:c.-559G>T
  • NM_001351502.2:c.-559G>T
  • NM_006731.2:c.-45G>T
  • LRG_434t1:c.-45G>T
  • LRG_434t2:c.-45G>T
  • LRG_434:g.21859G>T
  • NC_000009.11:g.108337269G>T
  • NM_001079802.1:c.-45G>T
  • NM_001079802.2:c.-45G>T
  • NR_147213.2:n.171G>T
  • NR_147214.2:n.79G>T
Links:
dbSNP: rs77013649
NCBI 1000 Genomes Browser:
rs77013649
Molecular consequence:
  • NM_001079802.2:c.-45G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001198963.2:c.-45G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351496.2:c.-45G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351497.2:c.-212G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351498.2:c.-45G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351499.2:c.-559G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351500.2:c.-559G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351501.2:c.-559G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351502.2:c.-559G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_006731.2:c.-45G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NR_147213.2:n.171G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147214.2:n.79G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
3

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
SCV000111300Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Benign
(Dec 6, 2012) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown3not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000111300.8

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

Last Updated: Oct 8, 2024