NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) AND not provided

Clinical significance:Benign (Last evaluated: Aug 28, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000712815.3

Allele description [Variation Report for NM_001077365.2(POMT1):c.1692G>A (p.Arg564=)]

NM_001077365.2(POMT1):c.1692G>A (p.Arg564=)

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.1692G>A (p.Arg564=)
Other names:
p.R586R:AGG>AGA
HGVS:
  • NC_000009.12:g.131520187G>A
  • NG_008896.1:g.22286G>A
  • NM_001077365.2:c.1692G>AMANE SELECT
  • NM_001077366.2:c.1530G>A
  • NM_001136113.2:c.1692G>A
  • NM_001136114.2:c.1341G>A
  • NM_001353193.2:c.1758G>A
  • NM_001353194.2:c.1530G>A
  • NM_001353195.2:c.1341G>A
  • NM_001353196.2:c.1602G>A
  • NM_001353197.2:c.1596G>A
  • NM_001353198.2:c.1596G>A
  • NM_001353199.2:c.1407G>A
  • NM_001353200.2:c.1236G>A
  • NM_001374689.1:c.1680G>A
  • NM_001374690.1:c.1473G>A
  • NM_001374691.1:c.1341G>A
  • NM_001374692.1:c.1341G>A
  • NM_001374693.1:c.1341G>A
  • NM_001374695.1:c.1302G>A
  • NM_007171.3:c.1758G>A
  • NM_007171.4:c.1758G>A
  • NP_001070833.1:p.Arg564=
  • NP_001070834.1:p.Arg510=
  • NP_001129585.1:p.Arg564=
  • NP_001129586.1:p.Arg447=
  • NP_001340122.2:p.Arg586=
  • NP_001340123.1:p.Arg510=
  • NP_001340124.1:p.Arg447=
  • NP_001340125.1:p.Arg534=
  • NP_001340126.2:p.Arg532=
  • NP_001340127.2:p.Arg532=
  • NP_001340128.2:p.Arg469=
  • NP_001340129.1:p.Arg412=
  • NP_001361618.1:p.Arg560=
  • NP_001361619.1:p.Arg491=
  • NP_001361620.1:p.Arg447=
  • NP_001361621.1:p.Arg447=
  • NP_001361622.1:p.Arg447=
  • NP_001361624.1:p.Arg434=
  • NP_009102.3:p.Arg586=
  • NP_009102.4:p.Arg586=
  • LRG_842t1:c.1758G>A
  • LRG_842t2:c.1692G>A
  • LRG_842p1:p.Arg586=
  • LRG_842p2:p.Arg564=
  • NC_000009.11:g.134395574G>A
  • NR_148391.2:n.1726G>A
  • NR_148392.2:n.1944G>A
  • NR_148393.2:n.1865G>A
  • NR_148394.2:n.1619G>A
  • NR_148395.2:n.2017G>A
  • NR_148396.2:n.1651G>A
  • NR_148397.2:n.1776G>A
  • NR_148398.2:n.1731G>A
  • NR_148399.2:n.2257G>A
  • NR_148400.2:n.1856G>A
  • p.Arg586Arg
Links:
dbSNP: rs34954751
NCBI 1000 Genomes Browser:
rs34954751
Molecular consequence:
  • NR_148391.2:n.1726G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148392.2:n.1944G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148393.2:n.1865G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148394.2:n.1619G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148395.2:n.2017G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148396.2:n.1651G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148397.2:n.1776G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148398.2:n.1731G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148399.2:n.2257G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148400.2:n.1856G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001077365.2:c.1692G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001077366.2:c.1530G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001136113.2:c.1692G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001136114.2:c.1341G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353193.2:c.1758G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353194.2:c.1530G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353195.2:c.1341G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353196.2:c.1602G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353197.2:c.1596G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353198.2:c.1596G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353199.2:c.1407G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353200.2:c.1236G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374689.1:c.1680G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374690.1:c.1473G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374691.1:c.1341G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374692.1:c.1341G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374693.1:c.1341G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374695.1:c.1302G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007171.3:c.1758G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007171.4:c.1758G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000843349Athena Diagnostics Inccriteria provided, single submitter
Benign
(Aug 28, 2017)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV001968723Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

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

Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.

Currier SC, Lee CK, Chang BS, Bodell AL, Pai GS, Job L, Lagae LG, Al-Gazali LI, Eyaid WM, Enns G, Dobyns WB, Walsh CA.

Am J Med Genet A. 2005 Feb 15;133A(1):53-7.

PubMed [citation]
PMID:
15637732
See all PubMed Citations (3)

Details of each submission

From Athena Diagnostics Inc, SCV000843349.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001968723.1

#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: Oct 6, 2021

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