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NM_002528.7(NTHL1):c.234dup (p.Trp79fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 22, 2022
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:
RCV002257312.2

Allele description [Variation Report for NM_002528.7(NTHL1):c.234dup (p.Trp79fs)]

NM_002528.7(NTHL1):c.234dup (p.Trp79fs)

Gene:
NTHL1:nth like DNA glycosylase 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_002528.7(NTHL1):c.234dup (p.Trp79fs)
HGVS:
  • NC_000016.10:g.2046248dup
  • NG_005895.1:g.1943dup
  • NG_008412.1:g.6619dup
  • NM_001318193.2:c.234dup
  • NM_001318194.2:c.24+32dup
  • NM_002528.7:c.234dupMANE SELECT
  • NP_001305122.2:p.Trp79fs
  • NP_002519.2:p.Trp79fs
  • LRG_1366t1:c.234dup
  • LRG_1366:g.6619dup
  • LRG_1366p1:p.Trp79fs
  • LRG_487:g.1943dup
  • NC_000016.9:g.2096249dup
  • NM_002528.5:c.258dupC
Protein change:
W79fs
Links:
dbSNP: rs2150946400
NCBI 1000 Genomes Browser:
rs2150946400
Molecular consequence:
  • NM_001318193.2:c.234dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_002528.7:c.234dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001318194.2:c.24+32dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002528938Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)		Likely pathogenic
(Feb 22, 2022) 		germlinecuration

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer.

Weren RD, Ligtenberg MJ, Kets CM, de Voer RM, Verwiel ET, Spruijt L, van Zelst-Stams WA, Jongmans MC, Gilissen C, Hehir-Kwa JY, Hoischen A, Shendure J, Boyle EA, Kamping EJ, Nagtegaal ID, Tops BB, Nagengast FM, Geurts van Kessel A, van Krieken JH, Kuiper RP, Hoogerbrugge N.

Nat Genet. 2015 Jun;47(6):668-71. doi: 10.1038/ng.3287. Epub 2015 May 4.

PubMed [citation]
PMID:
25938944

Details of each submission

From Sema4, Sema4, SCV002528938.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024