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NM_001077365.2(POMT1):c.1047T>C (p.Asp349=) AND Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Germline classification:
Benign (1 submission)
Last evaluated:
Oct 25, 2021
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:
RCV001789215.2

Allele description [Variation Report for NM_001077365.2(POMT1):c.1047T>C (p.Asp349=)]

NM_001077365.2(POMT1):c.1047T>C (p.Asp349=)

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.1047T>C (p.Asp349=)
HGVS:
  • NC_000009.12:g.131512101T>C
  • NG_008896.1:g.14200=
  • NM_001077365.2:c.1047T>CMANE SELECT
  • NM_001077366.2:c.885T>C
  • NM_001136113.2:c.1047T>C
  • NM_001136114.2:c.696T>C
  • NM_001353193.2:c.1113T>C
  • NM_001353194.2:c.885T>C
  • NM_001353195.2:c.696T>C
  • NM_001353196.2:c.957T>C
  • NM_001353197.2:c.951T>C
  • NM_001353198.2:c.951T>C
  • NM_001353199.2:c.762T>C
  • NM_001353200.2:c.591T>C
  • NM_001374689.1:c.1035T>C
  • NM_001374690.1:c.1047T>C
  • NM_001374691.1:c.696T>C
  • NM_001374692.1:c.696T>C
  • NM_001374693.1:c.824+634T>C
  • NM_001374695.1:c.657T>C
  • NM_007171.4:c.1113T>C
  • NP_001070833.1:p.Asp349=
  • NP_001070834.1:p.Asp295=
  • NP_001129585.1:p.Asp349=
  • NP_001129586.1:p.Asp232=
  • NP_001340122.2:p.Asp371=
  • NP_001340123.1:p.Asp295=
  • NP_001340124.1:p.Asp232=
  • NP_001340125.1:p.Asp319=
  • NP_001340126.2:p.Asp317=
  • NP_001340127.2:p.Asp317=
  • NP_001340128.2:p.Asp254=
  • NP_001340129.1:p.Asp197=
  • NP_001361618.1:p.Asp345=
  • NP_001361619.1:p.Asp349=
  • NP_001361620.1:p.Asp232=
  • NP_001361621.1:p.Asp232=
  • NP_001361624.1:p.Asp219=
  • NP_009102.4:p.Asp371=
  • LRG_842t1:c.1113T>C
  • LRG_842t2:c.1047T>C
  • LRG_842p1:p.Asp371=
  • LRG_842p2:p.Asp349=
  • NC_000009.11:g.134387488T>C
  • NP_009102.3:p.(=)
  • NR_148391.2:n.1081T>C
  • NR_148392.2:n.1299T>C
  • NR_148393.2:n.1081T>C
  • NR_148394.2:n.974T>C
  • NR_148395.2:n.1233T>C
  • NR_148396.2:n.867T>C
  • NR_148397.2:n.1131T>C
  • NR_148398.2:n.1086T>C
  • NR_148399.2:n.1473T>C
  • NR_148400.2:n.1072T>C
  • p.Asp371Asp
Links:
dbSNP: rs3739494
Molecular consequence:
  • NM_001374693.1:c.824+634T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NR_148391.2:n.1081T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148392.2:n.1299T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148393.2:n.1081T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148394.2:n.974T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148395.2:n.1233T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148396.2:n.867T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148397.2:n.1131T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148398.2:n.1086T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148399.2:n.1473T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148400.2:n.1072T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001077365.2:c.1047T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001077366.2:c.885T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001136113.2:c.1047T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001136114.2:c.696T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353193.2:c.1113T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353194.2:c.885T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353195.2:c.696T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353196.2:c.957T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353197.2:c.951T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353198.2:c.951T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353199.2:c.762T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353200.2:c.591T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374689.1:c.1035T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374690.1:c.1047T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374691.1:c.696T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374692.1:c.696T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374695.1:c.657T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007171.4:c.1113T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 (MDDGA1)
Synonyms:
COD-MD SYNDROME; Hydrocephalus, agyria and retinal dysplasia; Hard +/- E syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009364; MedGen: C4284790; Orphanet: 588; Orphanet: 899; OMIM: 236670

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002031767Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Oct 25, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot 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 Genome-Nilou Lab, SCV002031767.1

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

Last Updated: Apr 12, 2026

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