U.S. flag

An official website of the United States government

NM_002528.7(NTHL1):c.322G>T (p.Glu108Ter) AND Familial adenomatous polyposis 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 2023
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:
RCV003458299.1

Allele description [Variation Report for NM_002528.7(NTHL1):c.322G>T (p.Glu108Ter)]

NM_002528.7(NTHL1):c.322G>T (p.Glu108Ter)

Gene:
NTHL1:nth like DNA glycosylase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_002528.7(NTHL1):c.322G>T (p.Glu108Ter)
HGVS:
  • NC_000016.10:g.2046160C>A
  • NG_005895.1:g.1855C>A
  • NG_008412.1:g.6707G>T
  • NM_001318193.2:c.322G>T
  • NM_001318194.2:c.24+120G>T
  • NM_002528.7:c.322G>TMANE SELECT
  • NP_001305122.2:p.Glu108Ter
  • NP_002519.2:p.Glu108Ter
  • LRG_1366t1:c.322G>T
  • LRG_1366:g.6707G>T
  • LRG_1366p1:p.Glu108Ter
  • LRG_487:g.1855C>A
  • NC_000016.9:g.2096161C>A
Protein change:
E108*
Molecular consequence:
  • NM_001318194.2:c.24+120G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001318193.2:c.322G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_002528.7:c.322G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Familial adenomatous polyposis 3
Synonyms:
NTHL1-Related Adenomatous Polyposis and Colorectal Cancer; NTHL1-related attenuated familial adenomatous polyposis
Identifiers:
MONDO: MONDO:0014630; MedGen: C4225157; Orphanet: 220460; OMIM: 616415

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
SCV004188355Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Sep 1, 2023) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV004188355.1

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

Description

This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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

Last Updated: Dec 30, 2023