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NM_001077365.2(POMT1):c.2168G>A (p.Arg723Gln) AND not provided

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Oct 24, 2020
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000828432.8

Allele description [Variation Report for NM_001077365.2(POMT1):c.2168G>A (p.Arg723Gln)]

NM_001077365.2(POMT1):c.2168G>A (p.Arg723Gln)

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.2168G>A (p.Arg723Gln)
HGVS:
  • NC_000009.12:g.131523096G>A
  • NG_008896.1:g.25195G>A
  • NM_001077365.2:c.2168G>AMANE SELECT
  • NM_001077366.2:c.2006G>A
  • NM_001136113.2:c.2168G>A
  • NM_001136114.2:c.1817G>A
  • NM_001353193.2:c.2234G>A
  • NM_001353194.2:c.2006G>A
  • NM_001353195.2:c.1817G>A
  • NM_001353196.2:c.2078G>A
  • NM_001353197.2:c.2072G>A
  • NM_001353198.2:c.2072G>A
  • NM_001353199.2:c.1883G>A
  • NM_001353200.2:c.1712G>A
  • NM_001374689.1:c.2156G>A
  • NM_001374690.1:c.1949G>A
  • NM_001374691.1:c.1817G>A
  • NM_001374692.1:c.1817G>A
  • NM_001374693.1:c.1817G>A
  • NM_001374695.1:c.1778G>A
  • NM_007171.4:c.2234G>A
  • NP_001070833.1:p.Arg723Gln
  • NP_001070834.1:p.Arg669Gln
  • NP_001129585.1:p.Arg723Gln
  • NP_001129586.1:p.Arg606Gln
  • NP_001340122.2:p.Arg745Gln
  • NP_001340123.1:p.Arg669Gln
  • NP_001340124.1:p.Arg606Gln
  • NP_001340125.1:p.Arg693Gln
  • NP_001340126.2:p.Arg691Gln
  • NP_001340127.2:p.Arg691Gln
  • NP_001340128.2:p.Arg628Gln
  • NP_001340129.1:p.Arg571Gln
  • NP_001361618.1:p.Arg719Gln
  • NP_001361619.1:p.Arg650Gln
  • NP_001361620.1:p.Arg606Gln
  • NP_001361621.1:p.Arg606Gln
  • NP_001361622.1:p.Arg606Gln
  • NP_001361624.1:p.Arg593Gln
  • NP_009102.3:p.Arg745Gln
  • NP_009102.4:p.Arg745Gln
  • LRG_842t1:c.2234G>A
  • LRG_842t2:c.2168G>A
  • LRG_842p1:p.Arg745Gln
  • LRG_842p2:p.Arg723Gln
  • NC_000009.11:g.134398483G>A
  • NM_007171.3:c.2234G>A
  • NR_148391.2:n.2202G>A
  • NR_148392.2:n.2420G>A
  • NR_148393.2:n.2341G>A
  • NR_148394.2:n.2095G>A
  • NR_148395.2:n.2493G>A
  • NR_148396.2:n.2127G>A
  • NR_148397.2:n.2252G>A
  • NR_148398.2:n.2207G>A
  • NR_148399.2:n.2733G>A
  • NR_148400.2:n.2332G>A
Protein change:
R571Q
Links:
dbSNP: rs144051476
NCBI 1000 Genomes Browser:
rs144051476
Molecular consequence:
  • NM_001077365.2:c.2168G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077366.2:c.2006G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136113.2:c.2168G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136114.2:c.1817G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353193.2:c.2234G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353194.2:c.2006G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353195.2:c.1817G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353196.2:c.2078G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353197.2:c.2072G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353198.2:c.2072G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353199.2:c.1883G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353200.2:c.1712G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374689.1:c.2156G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374690.1:c.1949G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374691.1:c.1817G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374692.1:c.1817G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374693.1:c.1817G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374695.1:c.1778G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007171.4:c.2234G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148391.2:n.2202G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148392.2:n.2420G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148393.2:n.2341G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148394.2:n.2095G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148395.2:n.2493G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148396.2:n.2127G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148397.2:n.2252G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148398.2:n.2207G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148399.2:n.2733G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148400.2:n.2332G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000970120GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(Oct 24, 2020)
germlineclinical testing

Citation Link,

SCV001145184Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)
Likely benign
(Sep 14, 2018)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From GeneDx, SCV000970120.3

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

From Athena Diagnostics, SCV001145184.1

#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: Jul 7, 2024