U.S. flag

An official website of the United States government

NM_004387.4(NKX2-5):c.662C>T (p.Pro221Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 18, 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:
RCV000587249.1

Allele description [Variation Report for NM_004387.4(NKX2-5):c.662C>T (p.Pro221Leu)]

NM_004387.4(NKX2-5):c.662C>T (p.Pro221Leu)

Gene:
NKX2-5:NK2 homeobox 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q35.1
Genomic location:
Preferred name:
NM_004387.4(NKX2-5):c.662C>T (p.Pro221Leu)
HGVS:
  • NC_000005.10:g.173232882G>A
  • NG_013340.1:g.7431C>T
  • NM_001166175.2:c.*615C>T
  • NM_001166176.2:c.*461C>T
  • NM_004387.4:c.662C>TMANE SELECT
  • NP_004378.1:p.Pro221Leu
  • LRG_671t1:c.662C>T
  • LRG_671:g.7431C>T
  • LRG_671p1:p.Pro221Leu
  • NC_000005.9:g.172659885G>A
  • NM_004387.3:c.662C>T
Protein change:
P221L
Links:
dbSNP: rs1554093444
NCBI 1000 Genomes Browser:
rs1554093444
Molecular consequence:
  • NM_001166175.2:c.*615C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001166176.2:c.*461C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_004387.4:c.662C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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
SCV000698409Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jul 18, 2017) 		germlineclinical testing

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000698409.1

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

Description

Variant summary: The NKX2-5 c.662C>T (p.Pro221Leu) variant involves the alteration of a conserved nucleotide and 5/5 in silico tools predict a damaging outcome. However, no functional studies supporting these predictions were published at the time of evaluation. The variant is located outside of any known domain or repeat (InterPro). This variant is absent in 95726 control chromosomes (ExAC). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.

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

Last Updated: Sep 29, 2024