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NM_001174147.2(LMX1B):c.325C>T (p.Gln109Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 12, 2018
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:
RCV001269974.2

Allele description [Variation Report for NM_001174147.2(LMX1B):c.325C>T (p.Gln109Ter)]

NM_001174147.2(LMX1B):c.325C>T (p.Gln109Ter)

Gene:
LMX1B:LIM homeobox transcription factor 1 beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q33.3
Genomic location:
Preferred name:
NM_001174147.2(LMX1B):c.325C>T (p.Gln109Ter)
HGVS:
  • NC_000009.12:g.126615568C>T
  • NG_017039.1:g.6126C>T
  • NM_001174146.2:c.325C>T
  • NM_001174147.2:c.325C>TMANE SELECT
  • NM_002316.4:c.325C>T
  • NP_001167617.1:p.Gln109Ter
  • NP_001167618.1:p.Gln109Ter
  • NP_002307.2:p.Gln109Ter
  • LRG_1014t1:c.325C>T
  • LRG_1014t2:c.325C>T
  • LRG_1014t3:c.325C>T
  • LRG_1014:g.6126C>T
  • LRG_1014p1:p.Gln109Ter
  • LRG_1014p2:p.Gln109Ter
  • LRG_1014p3:p.Gln109Ter
  • NC_000009.11:g.129377847C>T
Protein change:
Q109*
Links:
dbSNP: rs1835287406
NCBI 1000 Genomes Browser:
rs1835287406
Molecular consequence:
  • NM_001174146.2:c.325C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001174147.2:c.325C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_002316.4:c.325C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001450374Clinical Genetics and Genomics, Karolinska University Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 12, 2018) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not 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 Clinical Genetics and Genomics, Karolinska University Hospital, SCV001450374.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Feb 4, 2024