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NM_002474.3(MYH11):c.3122-2_3124del AND Megacystis-microcolon-intestinal hypoperistalsis syndrome 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 2, 2022
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:
RCV002279754.1

Allele description [Variation Report for NM_002474.3(MYH11):c.3122-2_3124del]

NM_002474.3(MYH11):c.3122-2_3124del

Gene:
MYH11:myosin heavy chain 11 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16p13.11
Genomic location:
Preferred name:
NM_002474.3(MYH11):c.3122-2_3124del
HGVS:
  • NC_000016.10:g.15737621_15737625del
  • NG_009299.1:g.124409_124413del
  • NM_001040113.2:c.3143-2_3145del
  • NM_001040114.2:c.3143-2_3145del
  • NM_002474.3:c.3122-2_3124delMANE SELECT
  • NM_022844.3:c.3122-2_3124del
  • LRG_1401t1:c.3122-2_3124del
  • LRG_1401t2:c.3143-2_3145del
  • LRG_1401:g.124409_124413del
  • NC_000016.9:g.15831478_15831482del
  • NM_001040114.1:c.3143-2_3145delAGTGC
Links:
dbSNP: rs2151244350
NCBI 1000 Genomes Browser:
rs2151244350
Molecular consequence:
  • NM_001040113.2:c.3143-2_3145del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001040114.2:c.3143-2_3145del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_002474.3:c.3122-2_3124del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_022844.3:c.3122-2_3124del - splice acceptor variant - [Sequence Ontology: SO:0001574]
Observations:
1

Condition(s)

Name:
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2
Identifiers:
MONDO: MONDO:0025708; MedGen: C5543476; OMIM: 619351

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002098083Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Feb 2, 2022) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes21not provided2not 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 Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud, SCV002098083.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

This variant was inherited fom her mother. The patient also presents a deletion arr[GRCh37] 16p13.11(15551302_16194578)x1pat .

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyes2bloodnot provided2not provided1not provided

Last Updated: Dec 24, 2023