VCV000030441.5 - ClinVar

NC_000001.11:g.45329096_45333380delinsTA

Germline

Classification

no assertion criteria provided. Learn more about how ClinVar calculates review status.

Pathogenic

1 out of 2 submissions contributed to this classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NC_000001.11:g.45329096_45333380delinsTA

Variation ID: 30441 Accession: VCV000030441.5

Type and length

Indel, 4,285 bp

Location

Cytogenetic: 1p34.1 1: 45329096-45333380 (GRCh38) [ NCBI UCSC ] 1: 45794768-45799052 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Apr 27, 2015	Oct 1, 2022	Sep 1, 2011

HGVS

Nucleotide	Protein	Molecular consequence
NC_000001.11:g.45329096_45333380delinsTA
NC_000001.10:g.45794768_45799052delinsTA
NG_008189.1:g.12091_16375delinsTA
NG_090898.1:g.1_1135delinsTA		genic downstream transcript variant
LRG_220:g.12091_16375delinsTA
LRG_220t1:c.348+33_*210delinsTA

... more HGVS ... less HGVS

Protein change

Other names

c.348+33_*210delinsTA
EX3-16DEL

Canonical SPDI

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

ClinGen: CA259818 dbVar: nssv7487149 dbVar: nsv1197538 OMIM: 604933.0009 VarSome

Comment on variant

NCBI staff reviewed the sequence information reported in PubMed 21815886 Fig. 1d to determine the location of this allele on the current reference sequence.

Genomic deletion in MUTYH starting in intron 3 and extending to the 3'-UTR, replaced by an insertion of the dinucleotide TA.

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
MUTYH		Gene associated with autosomal recessive phenotype	No evidence available	GRCh38 GRCh37	2859	3019

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Familial adenomatous polyposis 2	Pathogenic (2)	no assertion criteria provided	Sep 1, 2011	RCV000023394.16

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Pathogenic (Sep 01, 2011) C Contributing to aggregate classification	no assertion criteria provided Method: literature only	FAMILIAL ADENOMATOUS POLYPOSIS 2 Affected status: not provided Allele origin: germline	OMIM Accession: SCV000044685.3 First in ClinVar: Apr 04, 2013 Last updated: Apr 27, 2015	Publications: PubMed (1) PubMed: 21815886 Comment on evidence: For discussion of the rearrangement of the MUTYH gene resulting in the deletion of exons 3 to 16 that was found in a patient with … (more) For discussion of the rearrangement of the MUTYH gene resulting in the deletion of exons 3 to 16 that was found in a patient with multiple colorectal adenomas (FAP2; 608456) by Rouleau et al. (2011), see 604933.0002. (less)

not provided (-) N Not contributing to aggregate classification	no classification provided Method: literature only	Familial adenomatous polyposis 2 Affected status: unknown Allele origin: germline	GeneReviews Accession: SCV000246170.3 First in ClinVar: Sep 29, 2015 Last updated: Oct 01, 2022	Publications: PubMed (3) PubMed: 21815886‚ 21962078‚ 24953332 Comment: Common in Spanish, Brazilian, and French populations

Germline Functional Evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
MUTYH Polyposis.	Adam MP	-	2021	PMID: 23035301
Prevalence of germline MUTYH mutations among Lynch-like syndrome patients.	Castillejo A	European journal of cancer (Oxford, England : 1990)	2014	PMID: 24953332
Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: case report.	Torrezan GT	BMC medical genetics	2011	PMID: 21962078
First large rearrangement in the MUTYH gene and attenuated familial adenomatous polyposis syndrome.	Rouleau E	Clinical genetics	2011	PMID: 21815886

Text-mined citations for this variant ...

Record last updated Jun 22, 2025

ClinVar Genomic variation as it relates to human health

NC_000001.11:g.45329096_45333380delinsTA

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...