NM_001079802.2(FKTN):c.1264_1286del (p.Asn422fs) AND Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 8, 2018
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:: RCV000674450.1

Allele description [Variation Report for NM_001079802.2(FKTN):c.1264_1286del (p.Asn422fs)]

NM_001079802.2(FKTN):c.1264_1286del (p.Asn422fs)

Gene:

FKTN:fukutin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

9q31.2

Genomic location:

Preferred name:

NM_001079802.2(FKTN):c.1264_1286del (p.Asn422fs)

HGVS:

NC_000009.12:g.105635142_105635164del
NG_008754.1:g.82013_82035del
NM_001079802.2:c.1264_1286delMANE SELECT
NM_001198963.2:c.1264_1270+16del
NM_001351496.2:c.1264_1286del
NM_001351497.2:c.1195_1217del
NM_001351498.2:c.*56_*78del
NM_001351499.2:c.868_890del
NM_001351500.2:c.868_890del
NM_001351501.2:c.868_890del
NM_001351502.2:c.868_890del
NM_006731.2:c.1264_1286del
NP_001073270.1:p.Asn422fs
NP_001338425.1:p.Asn422fs
NP_001338426.1:p.Asn399fs
NP_001338428.1:p.Asn290fs
NP_001338429.1:p.Asn290fs
NP_001338430.1:p.Asn290fs
NP_001338431.1:p.Asn290fs
NP_006722.2:p.Asn422fs
LRG_434t2:c.1264_1286del
LRG_434:g.82013_82035del
LRG_434p2:p.Asn422fs
NC_000009.11:g.108397423_108397445del
NM_001079802.1:c.1264_1286del23
NR_147213.2:n.1387_1409del
NR_147214.2:n.1559_1581del

Protein change:

N290fs

Links:

dbSNP: rs1554766898

NCBI 1000 Genomes Browser:

rs1554766898

Molecular consequence:

NM_001351498.2:c.*56_*78del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001079802.2:c.1264_1286del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351496.2:c.1264_1286del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351497.2:c.1195_1217del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351499.2:c.868_890del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351500.2:c.868_890del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351501.2:c.868_890del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351502.2:c.868_890del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_006731.2:c.1264_1286del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_147213.2:n.1387_1409del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_147214.2:n.1559_1581del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001198963.2:c.1264_1270+16del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 (MDDGA4)
Synonyms:: Fukuyama type muscular dystrophy; Muscular dystrophy, congenital progressive, with mental retardation; Muscular dystrophy, congenital, with central nervous system involvement; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009678; MedGen: C0410174; Orphanet: 588; Orphanet: 899; OMIM: 253800

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000799788	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (May 8, 2018)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000799788

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(May 8, 2018)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Counsyl, SCV000799788.1

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

Last Updated: Oct 8, 2024

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