NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val) AND not provided

Clinical significance:Benign (Last evaluated: Nov 1, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000712821.4

Allele description [Variation Report for NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val)]

NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val)

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.1856C>T (p.Ala619Val)
HGVS:
  • NC_000009.12:g.131522077C>T
  • NG_008896.1:g.24176C>T
  • NM_001077365.2:c.1856C>TMANE SELECT
  • NM_001077366.2:c.1694C>T
  • NM_001136113.2:c.1856C>T
  • NM_001136114.2:c.1505C>T
  • NM_001353193.2:c.1922C>T
  • NM_001353194.2:c.1694C>T
  • NM_001353195.2:c.1505C>T
  • NM_001353196.2:c.1766C>T
  • NM_001353197.2:c.1760C>T
  • NM_001353198.2:c.1760C>T
  • NM_001353199.2:c.1571C>T
  • NM_001353200.2:c.1400C>T
  • NM_001374689.1:c.1844C>T
  • NM_001374690.1:c.1637C>T
  • NM_001374691.1:c.1505C>T
  • NM_001374692.1:c.1505C>T
  • NM_001374693.1:c.1505C>T
  • NM_001374695.1:c.1466C>T
  • NM_007171.3:c.1922C>T
  • NM_007171.4:c.1922C>T
  • NP_001070833.1:p.Ala619Val
  • NP_001070834.1:p.Ala565Val
  • NP_001129585.1:p.Ala619Val
  • NP_001129586.1:p.Ala502Val
  • NP_001340122.2:p.Ala641Val
  • NP_001340123.1:p.Ala565Val
  • NP_001340124.1:p.Ala502Val
  • NP_001340125.1:p.Ala589Val
  • NP_001340126.2:p.Ala587Val
  • NP_001340127.2:p.Ala587Val
  • NP_001340128.2:p.Ala524Val
  • NP_001340129.1:p.Ala467Val
  • NP_001361618.1:p.Ala615Val
  • NP_001361619.1:p.Ala546Val
  • NP_001361620.1:p.Ala502Val
  • NP_001361621.1:p.Ala502Val
  • NP_001361622.1:p.Ala502Val
  • NP_001361624.1:p.Ala489Val
  • NP_009102.3:p.Ala641Val
  • NP_009102.4:p.Ala641Val
  • LRG_842t1:c.1922C>T
  • LRG_842t2:c.1856C>T
  • LRG_842p1:p.Ala641Val
  • LRG_842p2:p.Ala619Val
  • NC_000009.11:g.134397464C>T
  • NR_148391.2:n.1890C>T
  • NR_148392.2:n.2108C>T
  • NR_148393.2:n.2029C>T
  • NR_148394.2:n.1783C>T
  • NR_148395.2:n.2181C>T
  • NR_148396.2:n.1815C>T
  • NR_148397.2:n.1940C>T
  • NR_148398.2:n.1895C>T
  • NR_148399.2:n.2421C>T
  • NR_148400.2:n.2020C>T
Protein change:
A467V
Links:
dbSNP: rs12115566
NCBI 1000 Genomes Browser:
rs12115566
Molecular consequence:
  • NM_001077365.2:c.1856C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077366.2:c.1694C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136113.2:c.1856C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136114.2:c.1505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353193.2:c.1922C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353194.2:c.1694C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353195.2:c.1505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353196.2:c.1766C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353197.2:c.1760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353198.2:c.1760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353199.2:c.1571C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353200.2:c.1400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374689.1:c.1844C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374690.1:c.1637C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374691.1:c.1505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374692.1:c.1505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374693.1:c.1505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374695.1:c.1466C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007171.3:c.1922C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007171.4:c.1922C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148391.2:n.1890C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148392.2:n.2108C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148393.2:n.2029C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148394.2:n.1783C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148395.2:n.2181C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148396.2:n.1815C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148397.2:n.1940C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148398.2:n.1895C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148399.2:n.2421C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148400.2:n.2020C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000843355Athena Diagnostics Inccriteria provided, single submitter
Benign
(Nov 1, 2017)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

SCV001945140GeneDxcriteria provided, single submitter
Benign
(Mar 3, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

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

Citations

PubMed

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

van Reeuwijk J, Maugenre S, van den Elzen C, Verrips A, Bertini E, Muntoni F, Merlini L, Scheffer H, Brunner HG, Guicheney P, van Bokhoven H.

Hum Mutat. 2006 May;27(5):453-9.

PubMed [citation]
PMID:
16575835

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F.

Brain. 2007 Oct;130(Pt 10):2725-35. Epub 2007 Sep 18.

PubMed [citation]
PMID:
17878207
See all PubMed Citations (4)

Details of each submission

From Athena Diagnostics Inc, SCV000843355.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV001945140.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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