NM_002528.7(NTHL1):c.305_315del (p.Val102fs) 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:: RCV003458311.1

Allele description [Variation Report for NM_002528.7(NTHL1):c.305_315del (p.Val102fs)]

NM_002528.7(NTHL1):c.305_315del (p.Val102fs)

Gene:

NTHL1:nth like DNA glycosylase 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_002528.7(NTHL1):c.305_315del (p.Val102fs)

HGVS:

NC_000016.10:g.2046170_2046180del
NG_005895.1:g.1865_1875del
NG_008412.1:g.6690_6700del
NM_001318193.2:c.305_315del
NM_001318194.2:c.24+103_24+113del
NM_002528.7:c.305_315delMANE SELECT
NP_001305122.2:p.Val102fs
NP_002519.2:p.Val102fs
LRG_1366t1:c.305_315del
LRG_1366:g.6690_6700del
LRG_1366p1:p.Val102fs
LRG_487:g.1865_1875del
NC_000016.9:g.2096171_2096181del

Protein change:

V102fs

Molecular consequence:

NM_001318193.2:c.305_315del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_002528.7:c.305_315del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001318194.2:c.24+103_24+113del - intron variant - [Sequence Ontology: SO:0001627]

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

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LOC121757076 [Salvia splendens]
LOC121757076 [Salvia splendens]
Gene ID:121757076

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004188391	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Sep 1, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004188391

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Pathogenic
(Sep 1, 2023)

unknown

clinical testing

Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Myriad Genetics, Inc., SCV004188391.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 30, 2023

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