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NM_001079668.3(NKX2-1):c.612C>A (p.Tyr204Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 27, 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:
RCV002300981.2

Allele description [Variation Report for NM_001079668.3(NKX2-1):c.612C>A (p.Tyr204Ter)]

NM_001079668.3(NKX2-1):c.612C>A (p.Tyr204Ter)

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.612C>A (p.Tyr204Ter)
HGVS:
  • NC_000014.9:g.36517872G>T
  • NG_013365.1:g.7354C>A
  • NM_001079668.3:c.612C>AMANE SELECT
  • NM_003317.4:c.522C>A
  • NP_001073136.1:p.Tyr204Ter
  • NP_003308.1:p.Tyr174Ter
  • NC_000014.8:g.36987077G>T
  • NM_001079668.2:c.612C>A
Protein change:
Y174*
Molecular consequence:
  • NM_001079668.3:c.612C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003317.4:c.522C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002588285GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Oct 27, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV002588285.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 198 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 8, 2023