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NM_002528.7(NTHL1):c.246_247delinsAT (p.Asp83Tyr) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 28, 2024
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:
RCV002424861.3

Allele description [Variation Report for NM_002528.7(NTHL1):c.246_247delinsAT (p.Asp83Tyr)]

NM_002528.7(NTHL1):c.246_247delinsAT (p.Asp83Tyr)

Gene:
NTHL1:nth like DNA glycosylase 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_002528.7(NTHL1):c.246_247delinsAT (p.Asp83Tyr)
HGVS:
  • NC_000016.10:g.2046235_2046236delinsAT
  • NG_005895.1:g.1930_1931delinsAT
  • NG_008412.1:g.6631_6632delinsAT
  • NM_001318193.2:c.246_247delinsAT
  • NM_001318194.2:c.24+44_24+45delinsAT
  • NM_002528.7:c.246_247delinsATMANE SELECT
  • NP_001305122.2:p.Asp83Tyr
  • NP_002519.2:p.Asp83Tyr
  • LRG_1366t1:c.246_247delinsAT
  • LRG_1366:g.6631_6632delinsAT
  • LRG_1366p1:p.Asp83Tyr
  • LRG_487:g.1930_1931delinsAT
  • NC_000016.9:g.2096236_2096237delinsAT
  • NM_002528.5:c.270_271delGGinsAT
  • NM_002528.6:c.270_271delGGinsAT
  • NM_002528.6:c.270_271delinsAT
Protein change:
D83Y
Links:
dbSNP: rs1596222995
NCBI 1000 Genomes Browser:
rs1596222995
Molecular consequence:
  • NM_001318194.2:c.24+44_24+45delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001318193.2:c.246_247delinsAT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002528.7:c.246_247delinsAT - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002741728Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 28, 2024) 		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, SCV002741728.3

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

Description

The c.270_271delGGinsAT variant (also known as p.D91Y), located in coding exon 2 of the NTHL1 gene, results from an in-frame deletion of GG and insertion of AT at nucleotide positions 270 to 271. This results in the substitution of the aspartic acid residue for a tyrosine residue at codon 91, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Based on the available evidence, the clinical significance of this variant remains unclear.

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

Last Updated: Aug 11, 2024