NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) AND Walker-Warburg congenital muscular dystrophy

Germline classification:: Benign (2 submissions)
Last evaluated:: Feb 1, 2024
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:: RCV000460207.20

Allele description [Variation Report for NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser)]

NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser)

Gene:

FKTN:fukutin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q31.2

Genomic location:

Preferred name:

NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser)

Other names:

p.G125S:GGC>AGC

HGVS:

NC_000009.12:g.105604218G>A
NG_008754.1:g.51089G>A
NM_001079802.2:c.373G>AMANE SELECT
NM_001198963.2:c.373G>A
NM_001351496.2:c.373G>A
NM_001351497.2:c.304G>A
NM_001351498.2:c.373G>A
NM_001351499.2:c.-24G>A
NM_001351500.2:c.-24G>A
NM_001351501.2:c.-24G>A
NM_001351502.2:c.-24G>A
NM_006731.2:c.373G>A
NP_001073270.1:p.Gly125Ser
NP_001073270.1:p.Gly125Ser
NP_001185892.1:p.Gly125Ser
NP_001338425.1:p.Gly125Ser
NP_001338426.1:p.Gly102Ser
NP_001338427.1:p.Gly125Ser
NP_006722.2:p.Gly125Ser
LRG_434t1:c.373G>A
LRG_434t2:c.373G>A
LRG_434:g.51089G>A
LRG_434p1:p.Gly125Ser
LRG_434p2:p.Gly125Ser
NC_000009.11:g.108366499G>A
NM_001079802.1:c.373G>A
NR_147213.2:n.588G>A
NR_147214.2:n.496G>A
O75072:p.Gly125Ser

Protein change:

G102S; GLY125SER

Links:

UniProtKB: O75072#VAR_033926; OMIM: 607440.0012; dbSNP: rs34006675

NCBI 1000 Genomes Browser:

rs34006675

Molecular consequence:

NM_001351499.2:c.-24G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001351500.2:c.-24G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001351501.2:c.-24G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001351502.2:c.-24G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001079802.2:c.373G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001198963.2:c.373G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001351496.2:c.373G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001351497.2:c.304G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001351498.2:c.373G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_006731.2:c.373G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_147213.2:n.588G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_147214.2:n.496G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Walker-Warburg congenital muscular dystrophy
Synonyms:: Muscular dystrophy-dystroglycanopathy, type A; Walker-Warburg syndrome
Identifiers:: MONDO: MONDO:0000171; MedGen: C0265221; Orphanet: 899; OMIM: PS236670

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000557842	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Feb 1, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002079564	Natera, Inc.	no assertion criteria provided	Benign (Oct 28, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000557842

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Feb 1, 2024)

germline

clinical testing

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

SCV002079564

Natera, Inc.

no assertion criteria provided

Benign
(Oct 28, 2019)

germline

clinical testing

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000557842.7

#	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

From Natera, Inc., SCV002079564.1

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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