NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del) AND Autosomal recessive limb-girdle muscular dystrophy type 2K

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 20, 2019
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:: RCV000850367.2

Allele description [Variation Report for NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del)]

NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del)

Gene:

POMT1:protein O-mannosyltransferase 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

9q34.13

Genomic location:

Preferred name:

NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del)

HGVS:

NC_000009.12:g.131506164_131506166TCT[2]
NC_000009.12:g.131506165CTT[2]
NG_008896.2:g.8264CTT[2]
NM_001077365.2:c.174CTT[2]MANE SELECT
NM_001077366.2:c.12CTT[2]
NM_001136113.2:c.174CTT[2]
NM_001136114.1:c.-122-239TCT[2]
NM_001136114.2:c.-122-239TCT[2]
NM_001353193.2:c.174CTT[2]
NM_001353194.2:c.12CTT[2]
NM_001353195.2:c.-122-239TCT[2]
NM_001353196.2:c.123-239TCT[2]
NM_001353197.2:c.12CTT[2]
NM_001353198.2:c.12CTT[2]
NM_001353199.2:c.-122-239TCT[2]
NM_001353200.2:c.-80-239TCT[2]
NM_001374689.1:c.12CTT[2]
NM_001374690.1:c.174CTT[2]
NM_001374691.1:c.-71-1204TCT[2]
NM_001374692.1:c.-71-1204TCT[2]
NM_001374693.1:c.12CTT[2]
NM_001374695.1:c.-30+1824TCT[2]
NM_007171.4:c.174CTT[2]
NP_001070833.1:p.Phe60del
NP_001070833.1:p.Phe60del
NP_001070834.1:p.Phe6del
NP_001129585.1:p.Phe60del
NP_001340122.2:p.Phe60del
NP_001340123.1:p.Phe6del
NP_001340126.2:p.Phe6del
NP_001340127.2:p.Phe6del
NP_001361618.1:p.Phe6del
NP_001361619.1:p.Phe60del
NP_001361622.1:p.Phe6del
NP_009102.4:p.Phe60del
LRG_842t1:c.174CTT[2]
LRG_842t2:c.174CTT[2]
LRG_842:g.8264CTT[2]
LRG_842p1:p.Phe60del
LRG_842p2:p.Phe60del
NC_000009.11:g.134381551_134381553del
NC_000009.11:g.134381552CTT[2]
NG_008896.1:g.8264CTT[2]
NM_001077365.2:c.174_176CTT[2]MANE SELECT
NM_007171.3:c.173_175delTCT
NM_007171.3:c.180_182del
NM_007171.3:c.180_182delCTT
NM_007171.4:c.180_182del
NR_148391.2:n.208CTT[2]
NR_148392.2:n.360CTT[2]
NR_148393.2:n.208CTT[2]
NR_148394.2:n.208CTT[2]
NR_148395.2:n.360CTT[2]
NR_148398.2:n.208CTT[2]
NR_148399.2:n.600CTT[2]

Protein change:

F60del

Links:

dbSNP: rs750195040

NCBI 1000 Genomes Browser:

rs750195040

Molecular consequence:

NM_001077365.2:c.174CTT[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001077366.2:c.12CTT[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001136113.2:c.174CTT[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001353193.2:c.174CTT[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001353194.2:c.12CTT[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001353197.2:c.12CTT[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001353198.2:c.12CTT[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001374689.1:c.12CTT[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001374690.1:c.174CTT[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001374693.1:c.12CTT[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_007171.4:c.174CTT[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001136114.2:c.-122-239TCT[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001353195.2:c.-122-239TCT[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001353196.2:c.123-239TCT[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001353199.2:c.-122-239TCT[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001353200.2:c.-80-239TCT[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001374691.1:c.-71-1204TCT[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001374692.1:c.-71-1204TCT[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001374695.1:c.-30+1824TCT[2] - intron variant - [Sequence Ontology: SO:0001627]
NR_148391.2:n.208CTT[2] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148392.2:n.360CTT[2] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148393.2:n.208CTT[2] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148394.2:n.208CTT[2] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148395.2:n.360CTT[2] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148398.2:n.208CTT[2] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148399.2:n.600CTT[2] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Autosomal recessive limb-girdle muscular dystrophy type 2K
Synonyms:: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K; Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Identifiers:: MONDO: MONDO:0012248; MedGen: C1836373; Orphanet: 86812; OMIM: 609308

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000992550	HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 20, 2019)	maternal	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000992550

HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 20, 2019)

maternal

research

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	maternal	unknown	1	not provided	not provided	1	not provided	research

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 HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq, SCV000992550.3

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

Description

ACMG codes:PM2; PM4

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

Last Updated: Mar 30, 2024

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