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NM_001079802.2(FKTN):c.393G>A (p.Glu131=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 24, 2021
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:
RCV002369989.2

Allele description [Variation Report for NM_001079802.2(FKTN):c.393G>A (p.Glu131=)]

NM_001079802.2(FKTN):c.393G>A (p.Glu131=)

Gene:
FKTN:fukutin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q31.2
Genomic location:
Preferred name:
NM_001079802.2(FKTN):c.393G>A (p.Glu131=)
HGVS:
  • NC_000009.12:g.105604238G>A
  • NG_008754.1:g.51109G>A
  • NM_001079802.2:c.393G>AMANE SELECT
  • NM_001198963.2:c.393G>A
  • NM_001351496.2:c.393G>A
  • NM_001351497.2:c.324G>A
  • NM_001351498.2:c.393G>A
  • NM_001351499.2:c.-4G>A
  • NM_001351500.2:c.-4G>A
  • NM_001351501.2:c.-4G>A
  • NM_001351502.2:c.-4G>A
  • NM_006731.2:c.393G>A
  • NP_001073270.1:p.Glu131=
  • NP_001185892.1:p.Glu131=
  • NP_001338425.1:p.Glu131=
  • NP_001338426.1:p.Glu108=
  • NP_001338427.1:p.Glu131=
  • NP_006722.2:p.Glu131=
  • LRG_434t1:c.393G>A
  • LRG_434t2:c.393G>A
  • LRG_434:g.51109G>A
  • LRG_434p2:p.Glu131=
  • NC_000009.11:g.108366519G>A
  • NM_001079802.1:c.393G>A
  • NR_147213.2:n.608G>A
  • NR_147214.2:n.516G>A
Links:
dbSNP: rs1472560195
NCBI 1000 Genomes Browser:
rs1472560195
Molecular consequence:
  • NM_001351499.2:c.-4G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351500.2:c.-4G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351501.2:c.-4G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351502.2:c.-4G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NR_147213.2:n.608G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147214.2:n.516G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001079802.2:c.393G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001198963.2:c.393G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001351496.2:c.393G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001351497.2:c.324G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001351498.2:c.393G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_006731.2:c.393G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV002624342Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Feb 24, 2021) 		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, SCV002624342.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024