NM_001048174.2(MUTYH):c.617TGG[1] (p.Val207del) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 8, 2019
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:: RCV001025963.2

Allele description [Variation Report for NM_001048174.2(MUTYH):c.617TGG[1] (p.Val207del)]

NM_001048174.2(MUTYH):c.617TGG[1] (p.Val207del)

Gene:

MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

1p34.1

Genomic location:

Preferred name:

NM_001048174.2(MUTYH):c.617TGG[1] (p.Val207del)

HGVS:

NC_000001.11:g.45332474CAC[1]
NC_000001.11:g.45332474_45332476CAC[1]
NG_008189.1:g.12993TGG[1]
NM_001048171.2:c.617TGG[1]
NM_001048172.2:c.620TGG[1]
NM_001048173.2:c.617TGG[1]
NM_001048174.2:c.617TGG[1]MANE SELECT
NM_001128425.2:c.701TGG[1]
NM_001293190.2:c.662TGG[1]
NM_001293191.2:c.650TGG[1]
NM_001293192.2:c.341TGG[1]
NM_001293195.2:c.617TGG[1]
NM_001293196.2:c.341TGG[1]
NM_001350650.2:c.272TGG[1]
NM_001350651.2:c.272TGG[1]
NM_012222.3:c.692TGG[1]
NP_001041636.2:p.Val207del
NP_001041637.1:p.Val208del
NP_001041638.1:p.Val207del
NP_001041639.1:p.Val207del
NP_001121897.1:p.Val235del
NP_001280119.1:p.Val222del
NP_001280120.1:p.Val218del
NP_001280121.1:p.Val115del
NP_001280124.1:p.Val207del
NP_001280125.1:p.Val115del
NP_001337579.1:p.Val92del
NP_001337580.1:p.Val92del
NP_036354.1:p.Val232del
LRG_220t1:c.704_706del
LRG_220:g.12993TGG[1]
NC_000001.10:g.45798146CAC[1]
NM_001128425.1:c.704_706delTGG
NR_146882.2:n.845TGG[1]
NR_146883.2:n.694TGG[1]

Protein change:

V115del

Links:

dbSNP: rs1570409746

NCBI 1000 Genomes Browser:

rs1570409746

Molecular consequence:

NM_001048171.2:c.617TGG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001048172.2:c.620TGG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001048173.2:c.617TGG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001048174.2:c.617TGG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001128425.2:c.701TGG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001293190.2:c.662TGG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001293191.2:c.650TGG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001293192.2:c.341TGG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001293195.2:c.617TGG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001293196.2:c.341TGG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001350650.2:c.272TGG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001350651.2:c.272TGG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_012222.3:c.692TGG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NR_146882.2:n.845TGG[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146883.2:n.694TGG[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001188253	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Uncertain significance (Mar 8, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001188253

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Uncertain significance
(Mar 8, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV001188253.3

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

Description

The c.704_706delTGG variant (also known as p.V235del) is located in coding exon 9 of the MUTYH gene. This variant results from an in-frame TGG deletion at nucleotide positions 704 to 706. This results in the in-frame deletion of a valine at codon 235. This amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Dec 24, 2023

ClinVar

Relating variation to medicine