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NM_004387.4(NKX2-5):c.890_891dup (p.Gly298fs) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 12, 2024
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:
RCV004025264.1

Allele description [Variation Report for NM_004387.4(NKX2-5):c.890_891dup (p.Gly298fs)]

NM_004387.4(NKX2-5):c.890_891dup (p.Gly298fs)

Gene:
NKX2-5:NK2 homeobox 5 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
5q35.1
Genomic location:
Preferred name:
NM_004387.4(NKX2-5):c.890_891dup (p.Gly298fs)
HGVS:
  • NC_000005.10:g.173232653_173232654dup
  • NG_013340.1:g.7659_7660dup
  • NM_001166175.2:c.*843_*844dup
  • NM_001166176.2:c.*689_*690dup
  • NM_004387.4:c.890_891dupMANE SELECT
  • NP_004378.1:p.Gly298fs
  • LRG_671t1:c.890_891dup
  • LRG_671:g.7659_7660dup
  • LRG_671p1:p.Gly298fs
  • NC_000005.9:g.172659655_172659656insGA
  • NC_000005.9:g.172659656_172659657dup
  • NM_004387.3:c.890_891dup
  • NM_004387.3:c.890_891dupTC
Protein change:
G298fs
Links:
dbSNP: rs778545351
NCBI 1000 Genomes Browser:
rs778545351
Molecular consequence:
  • NM_001166175.2:c.*843_*844dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001166176.2:c.*689_*690dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_004387.4:c.890_891dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000741221Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Feb 12, 2024)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000741221.4

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

Description

The c.890_891dupTC variant, located in coding exon 2 of the NKX2-5 gene, results from a duplication of TC at nucleotide position 890, causing a translational frameshift with a predicted alternate stop codon (p.G298Sfs*4). This alteration occurs at the 3' terminus of theNKX2-5 gene, is not expected to trigger nonsense-mediated mRNAdecay, and only impacts the last 8% of the protein. The exact functional effect of this alteration is unknown. Based on the available evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 24, 2024