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

Clinical significance:Benign/Likely benign (Last evaluated: Dec 2, 2015)

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:
RCV000259157.3

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_007171.3:c.2234G>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
  • 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_007171.3:c.2234G>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]
Observations:
3

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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
SCV000152358Genetic Services Laboratory, University of Chicagocriteria provided, single submitter
Likely benign
(Dec 2, 2015)
germlineclinical testing

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

SCV000227683EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Nov 20, 2014)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown3not 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 Genetic Services Laboratory, University of Chicago, SCV000152358.2

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

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000227683.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

Last Updated: Jun 14, 2021

Support Center