NM_001079668.3(NKX2-1):c.695C>T (p.Pro232Leu) AND Inborn genetic diseases

Clinical significance:Likely pathogenic (Last evaluated: Jul 19, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001266030.1

Allele description [Variation Report for NM_001079668.3(NKX2-1):c.695C>T (p.Pro232Leu)]

NM_001079668.3(NKX2-1):c.695C>T (p.Pro232Leu)

Genes:
NKX2-1:NK2 homeobox 1 [Gene - OMIM - HGNC]
SFTA3:surfactant associated 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q13.3
Genomic location:
Preferred name:
NM_001079668.3(NKX2-1):c.695C>T (p.Pro232Leu)
HGVS:
  • NC_000014.9:g.36517789G>A
  • NG_013365.1:g.7437C>T
  • NM_001079668.3:c.695C>TMANE SELECT
  • NM_003317.4:c.605C>T
  • NP_001073136.1:p.Pro232Leu
  • NP_003308.1:p.Pro202Leu
  • NC_000014.8:g.36986994G>A
  • NM_001079668.2:c.695C>T
  • NM_003317.3:c.605C>T
Protein change:
P202L
Molecular consequence:
  • NM_001079668.3:c.695C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003317.4:c.605C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001444202Ambry Geneticscriteria provided, single submitter
Likely pathogenic
(Jul 19, 2018)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiangermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case.

Carré A, Szinnai G, Castanet M, Sura-Trueba S, Tron E, Broutin-L'Hermite I, Barat P, Goizet C, Lacombe D, Moutard ML, Raybaud C, Raynaud-Ravni C, Romana S, Ythier H, Léger J, Polak M.

Hum Mol Genet. 2009 Jun 15;18(12):2266-76. doi: 10.1093/hmg/ddp162. Epub 2009 Mar 31.

PubMed [citation]
PMID:
19336474

Details of each submission

From Ambry Genetics, SCV001444202.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Mar 28, 2021

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