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NM_001142966.3(GREB1L):c.5396_5397del (p.Lys1799fs) AND Mayer-Rokitansky-Küster-Hauser syndrome type 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 13, 2023
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:
RCV003153281.1

Allele description [Variation Report for NM_001142966.3(GREB1L):c.5396_5397del (p.Lys1799fs)]

NM_001142966.3(GREB1L):c.5396_5397del (p.Lys1799fs)

Gene:
GREB1L:GREB1 like retinoic acid receptor coactivator [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
18q11.2
Genomic location:
Preferred name:
NM_001142966.3(GREB1L):c.5396_5397del (p.Lys1799fs)
HGVS:
  • NC_000018.10:g.21518158_21518159del
  • NM_001142966.3:c.5396_5397delMANE SELECT
  • NM_001410867.1:c.5525_5526delAA
  • NM_001410868.1:c.5069_5070delAA
  • NP_001136438.1:p.Lys1799fs
  • NP_001397796.1:p.Lys1842Thrfs
  • NP_001397797.1:p.Lys1690Thrfs
  • NC_000018.9:g.19098119_19098120del
  • NM_001142966.3:c.5395_5396delAAMANE SELECT
Protein change:
K1799fs
Molecular consequence:
  • NM_001142966.3:c.5396_5397del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001410867.1:c.5525_5526delAA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001410868.1:c.5069_5070delAA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Mayer-Rokitansky-Küster-Hauser syndrome type 2
Synonyms:
MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME, TYPE II; MRKH, TYPE II; MURCS association; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010989; MedGen: C4305568; Orphanet: 2578; Orphanet: 3109; OMIM: 601076

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003842240Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 13, 2023) 		unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes11not providednot providednot providedresearch

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 Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV003842240.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not provided1not provided

Last Updated: Mar 26, 2023