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NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) AND multiple conditions

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 14, 2017
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:
RCV000576678.10

Allele description [Variation Report for NM_001077365.2(POMT1):c.913G>A (p.Val305Ile)]

NM_001077365.2(POMT1):c.913G>A (p.Val305Ile)

Gene:
POMT1:protein O-mannosyltransferase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.13
Genomic location:
Preferred name:
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile)
HGVS:
  • NC_000009.12:g.131511394G>A
  • NG_008896.1:g.13493G>A
  • NM_001077365.2:c.913G>AMANE SELECT
  • NM_001077366.2:c.751G>A
  • NM_001136113.2:c.913G>A
  • NM_001136114.2:c.562G>A
  • NM_001353193.2:c.979G>A
  • NM_001353194.2:c.751G>A
  • NM_001353195.2:c.562G>A
  • NM_001353196.2:c.823G>A
  • NM_001353197.2:c.817G>A
  • NM_001353198.2:c.817G>A
  • NM_001353199.2:c.628G>A
  • NM_001353200.2:c.457G>A
  • NM_001374689.1:c.896G>A
  • NM_001374690.1:c.913G>A
  • NM_001374691.1:c.562G>A
  • NM_001374692.1:c.562G>A
  • NM_001374693.1:c.751G>A
  • NM_001374695.1:c.523G>A
  • NM_007171.4:c.979G>A
  • NP_001070833.1:p.Val305Ile
  • NP_001070834.1:p.Val251Ile
  • NP_001129585.1:p.Val305Ile
  • NP_001129586.1:p.Val188Ile
  • NP_001340122.2:p.Val327Ile
  • NP_001340123.1:p.Val251Ile
  • NP_001340124.1:p.Val188Ile
  • NP_001340125.1:p.Val275Ile
  • NP_001340126.2:p.Val273Ile
  • NP_001340127.2:p.Val273Ile
  • NP_001340128.2:p.Val210Ile
  • NP_001340129.1:p.Val153Ile
  • NP_001361618.1:p.Gly299Asp
  • NP_001361619.1:p.Val305Ile
  • NP_001361620.1:p.Val188Ile
  • NP_001361621.1:p.Val188Ile
  • NP_001361622.1:p.Val251Ile
  • NP_001361624.1:p.Val175Ile
  • NP_009102.3:p.Val327Ile
  • NP_009102.3:p.Val327Ile
  • NP_009102.4:p.Val327Ile
  • LRG_842t1:c.979G>A
  • LRG_842t2:c.913G>A
  • LRG_842p1:p.Val327Ile
  • LRG_842p2:p.Val305Ile
  • NC_000009.11:g.134386781G>A
  • NM_007171.3:c.979G>A
  • NR_148391.2:n.947G>A
  • NR_148392.2:n.1165G>A
  • NR_148393.2:n.947G>A
  • NR_148394.2:n.835G>A
  • NR_148395.2:n.1099G>A
  • NR_148396.2:n.728G>A
  • NR_148397.2:n.992G>A
  • NR_148398.2:n.947G>A
  • NR_148399.2:n.1339G>A
  • NR_148400.2:n.933G>A
  • Q9Y6A1:p.Val327Ile
Protein change:
G299D
Links:
UniProtKB: Q9Y6A1#VAR_034391; dbSNP: rs4740164
NCBI 1000 Genomes Browser:
rs4740164
Molecular consequence:
  • NM_001077365.2:c.913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077366.2:c.751G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136113.2:c.913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136114.2:c.562G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353193.2:c.979G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353194.2:c.751G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353195.2:c.562G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353196.2:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353197.2:c.817G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353198.2:c.817G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353199.2:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353200.2:c.457G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374689.1:c.896G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374690.1:c.913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374691.1:c.562G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374692.1:c.562G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374693.1:c.751G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374695.1:c.523G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007171.4:c.979G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148391.2:n.947G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148392.2:n.1165G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148393.2:n.947G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148394.2:n.835G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148395.2:n.1099G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148396.2:n.728G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148397.2:n.992G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148398.2:n.947G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148399.2:n.1339G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148400.2:n.933G>A - 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
Name:
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 (MDDGA1)
Synonyms:
Hydrocephalus, agyria and retinal dysplasia; Hard +/- E syndrome; Warburg syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009364; MedGen: C4284790; Orphanet: 588; Orphanet: 899; OMIM: 236670
Name:
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 (MDDGB1)
Synonyms:
MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1
Identifiers:
MONDO: MONDO:0013159; MedGen: C5436962; OMIM: 613155

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000677420Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Benign
(Apr 14, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Athena Diagnostics, SCV000677420.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024