NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile) AND not specified

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Feb 19, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000203138.6

Allele description [Variation Report for NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile)]

NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile)

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.1303G>A (p.Val435Ile)
HGVS:
  • NC_000009.12:g.131518475G>A
  • NG_008896.1:g.20574G>A
  • NM_001077365.2:c.1303G>AMANE SELECT
  • NM_001077366.2:c.1141G>A
  • NM_001136113.1:c.1303G>A
  • NM_001136113.2:c.1303G>A
  • NM_001136114.2:c.952G>A
  • NM_001353193.2:c.1369G>A
  • NM_001353194.2:c.1141G>A
  • NM_001353195.2:c.952G>A
  • NM_001353196.2:c.1213G>A
  • NM_001353197.2:c.1207G>A
  • NM_001353198.2:c.1207G>A
  • NM_001353199.2:c.1018G>A
  • NM_001353200.2:c.847G>A
  • NM_001374689.1:c.1291G>A
  • NM_001374690.1:c.1303G>A
  • NM_001374691.1:c.952G>A
  • NM_001374692.1:c.952G>A
  • NM_001374693.1:c.952G>A
  • NM_001374695.1:c.913G>A
  • NM_007171.3:c.1369G>A
  • NM_007171.4:c.1369G>A
  • NP_001070833.1:p.Val435Ile
  • NP_001070834.1:p.Val381Ile
  • NP_001129585.1:p.Val435Ile
  • NP_001129585.1:p.Val435Ile
  • NP_001129586.1:p.Val318Ile
  • NP_001340122.2:p.Val457Ile
  • NP_001340123.1:p.Val381Ile
  • NP_001340124.1:p.Val318Ile
  • NP_001340125.1:p.Val405Ile
  • NP_001340126.2:p.Val403Ile
  • NP_001340127.2:p.Val403Ile
  • NP_001340128.2:p.Val340Ile
  • NP_001340129.1:p.Val283Ile
  • NP_001361618.1:p.Val431Ile
  • NP_001361619.1:p.Val435Ile
  • NP_001361620.1:p.Val318Ile
  • NP_001361621.1:p.Val318Ile
  • NP_001361622.1:p.Val318Ile
  • NP_001361624.1:p.Val305Ile
  • NP_009102.3:p.Val457Ile
  • NP_009102.4:p.Val457Ile
  • LRG_842t1:c.1369G>A
  • LRG_842t2:c.1303G>A
  • LRG_842p1:p.Val457Ile
  • LRG_842p2:p.Val435Ile
  • NC_000009.11:g.134393862G>A
  • NR_148391.2:n.1337G>A
  • NR_148392.2:n.1555G>A
  • NR_148393.2:n.1337G>A
  • NR_148394.2:n.1230G>A
  • NR_148395.2:n.1489G>A
  • NR_148396.2:n.1123G>A
  • NR_148397.2:n.1387G>A
  • NR_148398.2:n.1342G>A
  • NR_148399.2:n.1729G>A
  • NR_148400.2:n.1328G>A
Protein change:
V283I
Links:
dbSNP: rs377304621
NCBI 1000 Genomes Browser:
rs377304621
Molecular consequence:
  • NM_001077365.2:c.1303G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077366.2:c.1141G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136113.1:c.1303G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136113.2:c.1303G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136114.2:c.952G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353193.2:c.1369G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353194.2:c.1141G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353195.2:c.952G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353196.2:c.1213G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353197.2:c.1207G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353198.2:c.1207G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353199.2:c.1018G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353200.2:c.847G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374689.1:c.1291G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374690.1:c.1303G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374691.1:c.952G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374692.1:c.952G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374693.1:c.952G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374695.1:c.913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007171.3:c.1369G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007171.4:c.1369G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148391.2:n.1337G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148392.2:n.1555G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148393.2:n.1337G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148394.2:n.1230G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148395.2:n.1489G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148396.2:n.1123G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148397.2:n.1387G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148398.2:n.1342G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148399.2:n.1729G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148400.2:n.1328G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000257802Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphiacriteria provided, single submitter
Uncertain significance
(Feb 19, 2015)
unknownclinical testing

DGD_Variant_Analysis_Guidelines.docx,

Citation Link,

SCV000311731PreventionGenetics,PreventionGeneticscriteria provided, single submitter
Likely benigngermlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot 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 Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia, SCV000257802.2

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

From PreventionGenetics,PreventionGenetics, SCV000311731.1

#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 25, 2021

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