NM_001077365.2(POMT1):c.2178G>A (p.Ter726=) AND not specified

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Aug 4, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000194092.2

Allele description [Variation Report for NM_001077365.2(POMT1):c.2178G>A (p.Ter726=)]

NM_001077365.2(POMT1):c.2178G>A (p.Ter726=)

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.2178G>A (p.Ter726=)
HGVS:
  • NC_000009.12:g.131523106G>A
  • NG_008896.1:g.25205G>A
  • NM_001077365.2:c.2178G>AMANE SELECT
  • NM_001077366.2:c.2016G>A
  • NM_001136113.2:c.2178G>A
  • NM_001136114.2:c.1827G>A
  • NM_001353193.2:c.2244G>A
  • NM_001353194.2:c.2016G>A
  • NM_001353195.2:c.1827G>A
  • NM_001353196.2:c.2088G>A
  • NM_001353197.2:c.2082G>A
  • NM_001353198.2:c.2082G>A
  • NM_001353199.2:c.1893G>A
  • NM_001353200.2:c.1722G>A
  • NM_001374689.1:c.2166G>A
  • NM_001374690.1:c.1959G>A
  • NM_001374691.1:c.1827G>A
  • NM_001374692.1:c.1827G>A
  • NM_001374693.1:c.1827G>A
  • NM_001374695.1:c.1788G>A
  • NM_007171.3:c.2244G>A
  • NM_007171.4:c.2244G>A
  • NP_001070833.1:p.Ter726=
  • NP_001070834.1:p.Ter672=
  • NP_001129585.1:p.Ter726=
  • NP_001129586.1:p.Ter609=
  • NP_001340122.2:p.Ter748=
  • NP_001340123.1:p.Ter672=
  • NP_001340124.1:p.Ter609=
  • NP_001340125.1:p.Ter696=
  • NP_001340126.2:p.Ter694=
  • NP_001340127.2:p.Ter694=
  • NP_001340128.2:p.Ter631=
  • NP_001340129.1:p.Ter574=
  • NP_001361618.1:p.Ter722=
  • NP_001361619.1:p.Ter653=
  • NP_001361620.1:p.Ter609=
  • NP_001361621.1:p.Ter609=
  • NP_001361622.1:p.Ter609=
  • NP_001361624.1:p.Ter596=
  • NP_009102.3:p.Ter748=
  • NP_009102.4:p.Ter748=
  • LRG_842t1:c.2244G>A
  • LRG_842t2:c.2178G>A
  • LRG_842p1:p.Ter748=
  • LRG_842p2:p.Ter726=
  • NC_000009.11:g.134398493G>A
  • NR_148391.2:n.2212G>A
  • NR_148392.2:n.2430G>A
  • NR_148393.2:n.2351G>A
  • NR_148394.2:n.2105G>A
  • NR_148395.2:n.2503G>A
  • NR_148396.2:n.2137G>A
  • NR_148397.2:n.2262G>A
  • NR_148398.2:n.2217G>A
  • NR_148399.2:n.2743G>A
  • NR_148400.2:n.2342G>A
Links:
dbSNP: rs147143094
NCBI 1000 Genomes Browser:
rs147143094
Molecular consequence:
  • NR_148391.2:n.2212G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148392.2:n.2430G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148393.2:n.2351G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148394.2:n.2105G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148395.2:n.2503G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148396.2:n.2137G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148397.2:n.2262G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148398.2:n.2217G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148399.2:n.2743G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148400.2:n.2342G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001077365.2:c.2178G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001077366.2:c.2016G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001136113.2:c.2178G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001136114.2:c.1827G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353193.2:c.2244G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353194.2:c.2016G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353195.2:c.1827G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353196.2:c.2088G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353197.2:c.2082G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353198.2:c.2082G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353199.2:c.1893G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353200.2:c.1722G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374689.1:c.2166G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374690.1:c.1959G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374691.1:c.1827G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374692.1:c.1827G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374693.1:c.1827G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374695.1:c.1788G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007171.3:c.2244G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007171.4:c.2244G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
3

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000248587Genetic Services Laboratory, University of Chicagocriteria provided, single submitter
Uncertain significance
(Jun 2, 2015)
germlineclinical testing

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

SCV000331134EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely benign
(Aug 4, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown3not providednot providednot providednot providedclinical testing

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 Genetic Services Laboratory, University of Chicago, SCV000248587.1

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

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000331134.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

Last Updated: Aug 17, 2021

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