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NM_001077365.2(POMT1):c.1443C>T (p.His481=) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Apr 9, 2018
Review status:
criteria provided, conflicting classifications
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000731140.18

Allele description [Variation Report for NM_001077365.2(POMT1):c.1443C>T (p.His481=)]

NM_001077365.2(POMT1):c.1443C>T (p.His481=)

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.1443C>T (p.His481=)
HGVS:
  • NC_000009.12:g.131518914C>T
  • NG_008896.1:g.21013C>T
  • NM_001077365.2:c.1443C>TMANE SELECT
  • NM_001077366.2:c.1281C>T
  • NM_001136113.2:c.1443C>T
  • NM_001136114.2:c.1092C>T
  • NM_001353193.2:c.1509C>T
  • NM_001353194.2:c.1281C>T
  • NM_001353195.2:c.1092C>T
  • NM_001353196.2:c.1353C>T
  • NM_001353197.2:c.1347C>T
  • NM_001353198.2:c.1347C>T
  • NM_001353199.2:c.1158C>T
  • NM_001353200.2:c.987C>T
  • NM_001374689.1:c.1431C>T
  • NM_001374690.1:c.1365+377C>T
  • NM_001374691.1:c.1092C>T
  • NM_001374692.1:c.1092C>T
  • NM_001374693.1:c.1092C>T
  • NM_001374695.1:c.1053C>T
  • NM_007171.4:c.1509C>T
  • NP_001070833.1:p.His481=
  • NP_001070834.1:p.His427=
  • NP_001129585.1:p.His481=
  • NP_001129586.1:p.His364=
  • NP_001340122.2:p.His503=
  • NP_001340123.1:p.His427=
  • NP_001340124.1:p.His364=
  • NP_001340125.1:p.His451=
  • NP_001340126.2:p.His449=
  • NP_001340127.2:p.His449=
  • NP_001340128.2:p.His386=
  • NP_001340129.1:p.His329=
  • NP_001361618.1:p.His477=
  • NP_001361620.1:p.His364=
  • NP_001361621.1:p.His364=
  • NP_001361622.1:p.His364=
  • NP_001361624.1:p.His351=
  • NP_009102.3:p.His503=
  • NP_009102.4:p.His503=
  • LRG_842t1:c.1509C>T
  • LRG_842t2:c.1443C>T
  • LRG_842p1:p.His503=
  • LRG_842p2:p.His481=
  • NC_000009.11:g.134394301C>T
  • NM_007171.3:c.1509C>T
  • NR_148391.2:n.1477C>T
  • NR_148392.2:n.1695C>T
  • NR_148393.2:n.1616C>T
  • NR_148394.2:n.1370C>T
  • NR_148395.2:n.1768C>T
  • NR_148396.2:n.1402C>T
  • NR_148397.2:n.1527C>T
  • NR_148398.2:n.1482C>T
  • NR_148399.2:n.2008C>T
  • NR_148400.2:n.1607C>T
Links:
dbSNP: rs139415150
NCBI 1000 Genomes Browser:
rs139415150
Molecular consequence:
  • NM_001374690.1:c.1365+377C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NR_148391.2:n.1477C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148392.2:n.1695C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148393.2:n.1616C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148394.2:n.1370C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148395.2:n.1768C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148396.2:n.1402C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148397.2:n.1527C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148398.2:n.1482C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148399.2:n.2008C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148400.2:n.1607C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001077365.2:c.1443C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001077366.2:c.1281C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001136113.2:c.1443C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001136114.2:c.1092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353193.2:c.1509C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353194.2:c.1281C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353195.2:c.1092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353196.2:c.1353C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353197.2:c.1347C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353198.2:c.1347C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353199.2:c.1158C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353200.2:c.987C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374689.1:c.1431C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374691.1:c.1092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374692.1:c.1092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374693.1:c.1092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374695.1:c.1053C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007171.4:c.1509C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000515789GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Apr 9, 2018) 		germlineclinical testing

Citation Link,

SCV000858918Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Uncertain significance
(Dec 28, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000515789.4

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

From Eurofins Ntd Llc (ga), SCV000858918.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 3, 2024