U.S. flag

An official website of the United States government

  • replaced

NM_007171.3(POMT1):c.1998C>T (p.Tyr666=) AND multiple conditions

Germline classification:
Benign (1 submission)
Last evaluated:
Oct 31, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000531500.1

Allele description

NM_007171.3(POMT1):c.1998C>T (p.Tyr666=)

Gene:
POMT1:protein O-mannosyltransferase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.13
Genomic location:
Preferred name:
NM_007171.3(POMT1):c.1998C>T (p.Tyr666=)
HGVS:
  • NC_000009.12:g.131522153C>T
  • NG_008896.1:g.24252C>T
  • NM_001077365.2:c.1932C>T
  • NM_001077366.2:c.1770C>T
  • NM_001136113.1:c.1932C>T
  • NM_001136114.1:c.1581C>T
  • NM_001353193.2:c.1998C>T
  • NM_001353194.2:c.1770C>T
  • NM_001353195.2:c.1581C>T
  • NM_001353196.2:c.1842C>T
  • NM_001353197.2:c.1836C>T
  • NM_001353198.2:c.1836C>T
  • NM_001353199.2:c.1647C>T
  • NM_001353200.2:c.1476C>T
  • NM_007171.3:c.1998C>T
  • NP_001070833.1:p.Tyr644=
  • NP_001070834.1:p.Tyr590=
  • NP_001129585.1:p.Tyr644=
  • NP_001129586.1:p.Tyr527=
  • NP_001340122.2:p.Tyr666=
  • NP_001340123.1:p.Tyr590=
  • NP_001340124.1:p.Tyr527=
  • NP_001340125.1:p.Tyr614=
  • NP_001340126.2:p.Tyr612=
  • NP_001340127.2:p.Tyr612=
  • NP_001340128.2:p.Tyr549=
  • NP_001340129.1:p.Tyr492=
  • NP_009102.3:p.Tyr666=
  • NC_000009.11:g.134397540C>T
  • NR_148391.2:n.1966C>T
  • NR_148392.1:n.2200C>T
  • NR_148393.2:n.2105C>T
  • NR_148394.2:n.1859C>T
  • NR_148395.1:n.2273C>T
  • NR_148396.2:n.1891C>T
  • NR_148397.1:n.2032C>T
  • NR_148398.2:n.1971C>T
  • NR_148399.1:n.2513C>T
  • NR_148400.2:n.2096C>T
Links:
dbSNP: rs146512619
NCBI 1000 Genomes Browser:
rs146512619
Molecular consequence:
  • NR_148391.2:n.1966C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148393.2:n.2105C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148394.2:n.1859C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148396.2:n.1891C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148398.2:n.1971C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148400.2:n.2096C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001077365.2:c.1932C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001077366.2:c.1770C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001136113.1:c.1932C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001136114.1:c.1581C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353193.2:c.1998C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353194.2:c.1770C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353195.2:c.1581C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353196.2:c.1842C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353197.2:c.1836C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353198.2:c.1836C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353199.2:c.1647C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353200.2:c.1476C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007171.3:c.1998C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 (MDDGC1)
Synonyms:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 11
Identifiers:
MedGen: C1836373; Orphanet: 86812; OMIM: 609308
Name:
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 (MDDGB1)
Synonyms:
MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED
Identifiers:
MedGen: C3150415; OMIM: 613155
Name:
Walker-Warburg congenital muscular dystrophy (MDDGA1)
Synonyms:
HARD syndrome; Muscular dystrophy-dystroglycanopathy, type A; Walker-Warburg syndrome
Identifiers:
MedGen: C0265221; Orphanet: 899; OMIM: PS236670

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000649889Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Benign
(Oct 31, 2016) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000649889.1

#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: Nov 2, 2019