U.S. flag

An official website of the United States government

NM_000391.4(TPP1):c.1241A>T (p.Asn414Ile) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 5, 2020
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:
RCV002316995.9

Allele description [Variation Report for NM_000391.4(TPP1):c.1241A>T (p.Asn414Ile)]

NM_000391.4(TPP1):c.1241A>T (p.Asn414Ile)

Gene:
TPP1:tripeptidyl peptidase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000391.4(TPP1):c.1241A>T (p.Asn414Ile)
Other names:
p.N414I:AAT>ATT
HGVS:
  • NC_000011.10:g.6615467T>A
  • NG_008653.1:g.8995A>T
  • NM_000391.4:c.1241A>TMANE SELECT
  • NP_000382.3:p.Asn414Ile
  • LRG_830t1:c.1241A>T
  • LRG_830:g.8995A>T
  • LRG_830p1:p.Asn414Ile
  • NC_000011.9:g.6636698T>A
  • NM_000391.3:c.1241A>T
Protein change:
N414I
Links:
dbSNP: rs146798796
NCBI 1000 Genomes Browser:
rs146798796
Molecular consequence:
  • NM_000391.4:c.1241A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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
SCV000850569Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 5, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000850569.4

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

Description

The c.1241A>T (p.N414I) alteration is located in exon 10 (coding exon 10) of the TPP1 gene. This alteration results from an A to T substitution at nucleotide position 1241, causing the asparagine (N) at amino acid position 414 to be replaced by an isoleucine (I). Based on data from the Genome Aggregation Database (gnomAD) database, the TPP1 c.1241A>T alteration was observed in 0.03% (77/282854) of total alleles studied, with a frequency of 0.05% (70/129174) in the European (non-Finnish) subpopulation. This amino acid position is highly conserved in available vertebrate species. The in silico prediction for the p.N414I alteration is inconclusive. 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: Nov 10, 2024