U.S. flag

An official website of the United States government

NM_014168.4(METTL5):c.571_572del (p.Lys191fs) AND Intellectual disability, severe

Germline classification:
Pathogenic (1 submission)
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:
RCV000850069.1

Allele description [Variation Report for NM_014168.4(METTL5):c.571_572del (p.Lys191fs)]

NM_014168.4(METTL5):c.571_572del (p.Lys191fs)

Gene:
METTL5:methyltransferase 5, N6-adenosine [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q31.1
Genomic location:
Preferred name:
NM_014168.4(METTL5):c.571_572del (p.Lys191fs)
HGVS:
  • NC_000002.12:g.169812476_169812477del
  • NG_030640.1:g.18665_18666del
  • NM_001293186.2:c.571_572del
  • NM_001293187.2:c.571_572del
  • NM_014168.4:c.571_572delMANE SELECT
  • NP_001280115.1:p.Lys191fs
  • NP_001280116.1:p.Lys191fs
  • NP_054887.2:p.Lys191fs
  • NC_000002.11:g.170668986_170668987del
  • NM_014168.2:c.571_572del
  • NM_014168.2:c.571_572delAA
Protein change:
K191fs
Links:
OMIM: 618628.0002; dbSNP: rs1573965358
NCBI 1000 Genomes Browser:
rs1573965358
Molecular consequence:
  • NM_001293186.2:c.571_572del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293187.2:c.571_572del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_014168.4:c.571_572del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Intellectual disability, severe
Identifiers:
MedGen: C0036857; Human Phenotype Ontology: HP:0010864

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
SCV000966223Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicinheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Yemeniteinheritedyes21not 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 Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine, SCV000966223.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Yemenite2not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided2not provided1not provided

Last Updated: Jun 23, 2024