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NM_000433.4(NCF2):c.1462T>C (p.Ser488Pro) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 30, 2021
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:
RCV002592582.2

Allele description [Variation Report for NM_000433.4(NCF2):c.1462T>C (p.Ser488Pro)]

NM_000433.4(NCF2):c.1462T>C (p.Ser488Pro)

Gene:
NCF2:neutrophil cytosolic factor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q25.3
Genomic location:
Preferred name:
NM_000433.4(NCF2):c.1462T>C (p.Ser488Pro)
HGVS:
  • NC_000001.11:g.183560102A>G
  • NG_007267.1:g.35480T>C
  • NM_000433.3:c.1462T>C
  • NM_000433.4:c.1462T>CMANE SELECT
  • NM_001127651.3:c.1462T>C
  • NM_001190789.2:c.1219T>C
  • NM_001190794.2:c.1327T>C
  • NP_000424.2:p.Ser488Pro
  • NP_001121123.1:p.Ser488Pro
  • NP_001177718.1:p.Ser407Pro
  • NP_001177723.1:p.Ser443Pro
  • LRG_88t1:c.1462T>C
  • LRG_88:g.35480T>C
  • NC_000001.10:g.183529237A>G
Protein change:
S407P
Links:
dbSNP: rs1671974257
NCBI 1000 Genomes Browser:
rs1671974257
Molecular consequence:
  • NM_000433.4:c.1462T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127651.3:c.1462T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001190789.2:c.1219T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001190794.2:c.1327T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003755983Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 30, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003755983.2

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

Description

The c.1462T>C (p.S488P) alteration is located in exon 14 (coding exon 14) of the NCF2 gene. This alteration results from a T to C substitution at nucleotide position 1462, causing the serine (S) at amino acid position 488 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024