U.S. flag

An official website of the United States government

NM_001079668.3(NKX2-1):c.1003del (p.Ser335fs) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 30, 2017
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:
RCV000512817.3

Allele description [Variation Report for NM_001079668.3(NKX2-1):c.1003del (p.Ser335fs)]

NM_001079668.3(NKX2-1):c.1003del (p.Ser335fs)

Genes:
NKX2-1:NK2 homeobox 1 [Gene - OMIM - HGNC]
SFTA3:surfactant associated 3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
14q13.3
Genomic location:
Preferred name:
NM_001079668.3(NKX2-1):c.1003del (p.Ser335fs)
HGVS:
  • NC_000014.9:g.36517481del
  • NG_013365.1:g.7745del
  • NM_001079668.3:c.1003delMANE SELECT
  • NM_003317.4:c.913del
  • NP_001073136.1:p.Ser335fs
  • NP_003308.1:p.Ser305fs
  • NC_000014.8:g.36986686del
Protein change:
S305fs
Links:
dbSNP: rs1555349149
NCBI 1000 Genomes Browser:
rs1555349149
Molecular consequence:
  • NM_001079668.3:c.1003del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003317.4:c.913del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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
SCV000608698CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(Praxis fuer Humangenetik Tuebingen - Variant Classification Criteria)		Likely pathogenic
(Apr 30, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV000608698.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Dec 24, 2022