NM_001077365.2(POMT1):c.979C>A (p.Pro327Thr) AND multiple conditions

Clinical significance:Pathogenic (Last evaluated: May 12, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001391255.1

Allele description [Variation Report for NM_001077365.2(POMT1):c.979C>A (p.Pro327Thr)]

NM_001077365.2(POMT1):c.979C>A (p.Pro327Thr)

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.979C>A (p.Pro327Thr)
HGVS:
  • NC_000009.12:g.131511460C>A
  • NG_008896.1:g.13559C>A
  • NG_008896.2:g.13559C>A
  • NM_001077365.2:c.979C>AMANE SELECT
  • NM_001077366.2:c.817C>A
  • NM_001136113.2:c.979C>A
  • NM_001136114.2:c.628C>A
  • NM_001353193.2:c.1045C>A
  • NM_001353194.2:c.817C>A
  • NM_001353195.2:c.628C>A
  • NM_001353196.2:c.889C>A
  • NM_001353197.2:c.883C>A
  • NM_001353198.2:c.883C>A
  • NM_001353199.2:c.694C>A
  • NM_001353200.2:c.523C>A
  • NM_001374689.1:c.962C>A
  • NM_001374690.1:c.979C>A
  • NM_001374691.1:c.628C>A
  • NM_001374692.1:c.628C>A
  • NM_001374693.1:c.817C>A
  • NM_001374695.1:c.589C>A
  • NM_007171.4:c.1045C>A
  • NP_001070833.1:p.Pro327Thr
  • NP_001070834.1:p.Pro273Thr
  • NP_001129585.1:p.Pro327Thr
  • NP_001129586.1:p.Pro210Thr
  • NP_001340122.2:p.Pro349Thr
  • NP_001340123.1:p.Pro273Thr
  • NP_001340124.1:p.Pro210Thr
  • NP_001340125.1:p.Pro297Thr
  • NP_001340126.2:p.Pro295Thr
  • NP_001340127.2:p.Pro295Thr
  • NP_001340128.2:p.Pro232Thr
  • NP_001340129.1:p.Pro175Thr
  • NP_001361618.1:p.Pro321His
  • NP_001361619.1:p.Pro327Thr
  • NP_001361620.1:p.Pro210Thr
  • NP_001361621.1:p.Pro210Thr
  • NP_001361622.1:p.Pro273Thr
  • NP_001361624.1:p.Pro197Thr
  • NP_009102.4:p.Pro349Thr
  • LRG_842t1:c.1045C>A
  • LRG_842t2:c.979C>A
  • LRG_842:g.13559C>A
  • LRG_842p1:p.Pro349Thr
  • LRG_842p2:p.Pro327Thr
  • NC_000009.11:g.134386847C>A
  • NR_148391.2:n.1013C>A
  • NR_148392.2:n.1231C>A
  • NR_148393.2:n.1013C>A
  • NR_148394.2:n.901C>A
  • NR_148395.2:n.1165C>A
  • NR_148396.2:n.794C>A
  • NR_148397.2:n.1058C>A
  • NR_148398.2:n.1013C>A
  • NR_148399.2:n.1405C>A
  • NR_148400.2:n.999C>A
Protein change:
P175T
Molecular consequence:
  • NM_001077365.2:c.979C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077366.2:c.817C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136113.2:c.979C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136114.2:c.628C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353193.2:c.1045C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353194.2:c.817C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353195.2:c.628C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353196.2:c.889C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353197.2:c.883C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353198.2:c.883C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353199.2:c.694C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353200.2:c.523C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374689.1:c.962C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374690.1:c.979C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374691.1:c.628C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374692.1:c.628C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374693.1:c.817C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374695.1:c.589C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007171.4:c.1045C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148391.2:n.1013C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148392.2:n.1231C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148393.2:n.1013C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148394.2:n.901C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148395.2:n.1165C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148396.2:n.794C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148397.2:n.1058C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148398.2:n.1013C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148399.2:n.1405C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148400.2:n.999C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Ventriculomegaly
Synonyms:
Cerebral ventricular dilatation; Dilated cerebral ventricle; Dilated cerebral ventricles; See all synonyms [MedGen]
Identifiers:
MedGen: C3278923; Human Phenotype Ontology: HP:0002119
Name:
Abnormality of brainstem morphology
Synonyms:
Abnormality of the brainstem; Abnormal shape of brainstem
Identifiers:
MedGen: C1850601; Human Phenotype Ontology: HP:0002363

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001593204Genetics Institute, Tel Aviv Sourasky Medical Centercriteria provided, single submitter
Pathogenic
(May 12, 2021)
inheritedclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedunknownnot 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 Genetics Institute, Tel Aviv Sourasky Medical Center, SCV001593204.1

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

Last Updated: May 14, 2021

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