NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Dec 23, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000591710.3

Allele description [Variation Report for NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu)]

NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu)

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.197C>T (p.Pro66Leu)
HGVS:
  • NC_000009.12:g.131506188C>T
  • NG_008896.1:g.8287C>T
  • NM_001077365.2:c.197C>TMANE SELECT
  • NM_001077366.2:c.35C>T
  • NM_001136113.2:c.197C>T
  • NM_001136114.2:c.-122-215C>T
  • NM_001353193.2:c.197C>T
  • NM_001353194.2:c.35C>T
  • NM_001353195.2:c.-122-215C>T
  • NM_001353196.2:c.123-215C>T
  • NM_001353197.2:c.35C>T
  • NM_001353198.2:c.35C>T
  • NM_001353199.2:c.-122-215C>T
  • NM_001353200.2:c.-80-215C>T
  • NM_001374689.1:c.35C>T
  • NM_001374690.1:c.197C>T
  • NM_001374691.1:c.-71-1180C>T
  • NM_001374692.1:c.-71-1180C>T
  • NM_001374693.1:c.35C>T
  • NM_001374695.1:c.-30+1848C>T
  • NM_007171.3:c.197C>T
  • NM_007171.4:c.197C>T
  • NP_001070833.1:p.Pro66Leu
  • NP_001070834.1:p.Pro12Leu
  • NP_001129585.1:p.Pro66Leu
  • NP_001340122.2:p.Pro66Leu
  • NP_001340123.1:p.Pro12Leu
  • NP_001340126.2:p.Pro12Leu
  • NP_001340127.2:p.Pro12Leu
  • NP_001361618.1:p.Pro12Leu
  • NP_001361619.1:p.Pro66Leu
  • NP_001361622.1:p.Pro12Leu
  • NP_009102.3:p.Pro66Leu
  • NP_009102.4:p.Pro66Leu
  • LRG_842t1:c.197C>T
  • LRG_842t2:c.197C>T
  • LRG_842p1:p.Pro66Leu
  • LRG_842p2:p.Pro66Leu
  • NC_000009.11:g.134381575C>T
  • NR_148391.2:n.231C>T
  • NR_148392.2:n.383C>T
  • NR_148393.2:n.231C>T
  • NR_148394.2:n.231C>T
  • NR_148395.2:n.383C>T
  • NR_148398.2:n.231C>T
  • NR_148399.2:n.623C>T
Protein change:
P12L
Links:
dbSNP: rs757903559
NCBI 1000 Genomes Browser:
rs757903559
Molecular consequence:
  • NM_001136114.2:c.-122-215C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353195.2:c.-122-215C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353196.2:c.123-215C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353199.2:c.-122-215C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353200.2:c.-80-215C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374691.1:c.-71-1180C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374692.1:c.-71-1180C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374695.1:c.-30+1848C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001077365.2:c.197C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077366.2:c.35C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136113.2:c.197C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353193.2:c.197C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353194.2:c.35C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353197.2:c.35C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353198.2:c.35C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374689.1:c.35C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374690.1:c.197C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374693.1:c.35C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007171.3:c.197C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007171.4:c.197C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148391.2:n.231C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148392.2:n.383C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148393.2:n.231C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148394.2:n.231C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148395.2:n.383C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148398.2:n.231C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148399.2:n.623C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000708845EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(May 24, 2017)
germlineclinical testing

Citation Link,

SCV001816842GeneDxcriteria provided, single submitter
Uncertain significance
(Dec 23, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000708845.2

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

From GeneDx, SCV001816842.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Observed with a pathogenic variant in a patient with limb-girdle muscle weakness in published literature, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (Johnson et al., 2018); This variant is associated with the following publications: (PMID: 32528171, 30060766)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 24, 2021

Support Center