NM_001079802.2(FKTN):c.437G>A (p.Arg146Gln) AND not provided

Germline classification:: Uncertain significance (3 submissions)
Last evaluated:: May 19, 2021
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:: RCV000396885.11

Allele description [Variation Report for NM_001079802.2(FKTN):c.437G>A (p.Arg146Gln)]

NM_001079802.2(FKTN):c.437G>A (p.Arg146Gln)

Gene:

FKTN:fukutin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q31.2

Genomic location:

Preferred name:

NM_001079802.2(FKTN):c.437G>A (p.Arg146Gln)

HGVS:

NC_000009.12:g.105604282G>A
NG_008754.1:g.51153G>A
NM_001079802.2:c.437G>AMANE SELECT
NM_001198963.2:c.437G>A
NM_001351496.2:c.437G>A
NM_001351497.2:c.368G>A
NM_001351498.2:c.437G>A
NM_001351499.2:c.41G>A
NM_001351500.2:c.41G>A
NM_001351501.2:c.41G>A
NM_001351502.2:c.41G>A
NM_006731.2:c.437G>A
NP_001073270.1:p.Arg146Gln
NP_001073270.1:p.Arg146Gln
NP_001185892.1:p.Arg146Gln
NP_001338425.1:p.Arg146Gln
NP_001338426.1:p.Arg123Gln
NP_001338427.1:p.Arg146Gln
NP_001338428.1:p.Arg14Gln
NP_001338429.1:p.Arg14Gln
NP_001338430.1:p.Arg14Gln
NP_001338431.1:p.Arg14Gln
NP_006722.2:p.Arg146Gln
LRG_434t1:c.437G>A
LRG_434t2:c.437G>A
LRG_434:g.51153G>A
LRG_434p1:p.Arg146Gln
LRG_434p2:p.Arg146Gln
NC_000009.11:g.108366563G>A
NM_001079802.1:c.437G>A
NR_147213.2:n.652G>A
NR_147214.2:n.560G>A

Protein change:

R123Q

Links:

dbSNP: rs143748939

NCBI 1000 Genomes Browser:

rs143748939

Molecular consequence:

NM_001079802.2:c.437G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001198963.2:c.437G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001351496.2:c.437G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001351497.2:c.368G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001351498.2:c.437G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001351499.2:c.41G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001351500.2:c.41G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001351501.2:c.41G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001351502.2:c.41G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_006731.2:c.437G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_147213.2:n.652G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_147214.2:n.560G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

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

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000336065	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL ClinVar v180209 classification definitions)	Uncertain significance (Aug 16, 2018)	germline	clinical testing	Citation Link,
SCV001752381	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (May 19, 2021)	germline	clinical testing	Citation Link,
SCV003832688	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 24, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000336065

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)

Uncertain significance
(Aug 16, 2018)

germline

clinical testing

Citation Link,

SCV001752381

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(May 19, 2021)

germline

clinical testing

Citation Link,

SCV003832688

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 24, 2020)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	3	not provided	not provided	not provided	not provided	clinical 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), SCV000336065.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		3	not provided	not provided	not provided

From GeneDx, SCV001752381.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV003832688.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine