NM_001048174.2(MUTYH):c.1213del (p.Ala405fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 23, 2016
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:: RCV000568119.3

Allele description [Variation Report for NM_001048174.2(MUTYH):c.1213del (p.Ala405fs)]

NM_001048174.2(MUTYH):c.1213del (p.Ala405fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

1p34.1

Genomic location:

Preferred name:

NM_001048174.2(MUTYH):c.1213del (p.Ala405fs)

HGVS:

NC_000001.11:g.45331446del
NG_008189.1:g.14025del
NM_001048171.2:c.1213del
NM_001048172.2:c.1216del
NM_001048173.2:c.1213del
NM_001048174.2:c.1213delMANE SELECT
NM_001128425.2:c.1297del
NM_001293190.2:c.1258del
NM_001293191.2:c.1246del
NM_001293192.2:c.937del
NM_001293195.2:c.1213del
NM_001293196.2:c.937del
NM_001350650.2:c.868del
NM_001350651.2:c.868del
NM_012222.3:c.1288del
NP_001041636.2:p.Ala405fs
NP_001041637.1:p.Ala406fs
NP_001041638.1:p.Ala405fs
NP_001041639.1:p.Ala405fs
NP_001121897.1:p.Ala433fs
NP_001280119.1:p.Ala420fs
NP_001280120.1:p.Ala416fs
NP_001280121.1:p.Ala313fs
NP_001280124.1:p.Ala405fs
NP_001280125.1:p.Ala313fs
NP_001337579.1:p.Ala290fs
NP_001337580.1:p.Ala290fs
NP_036354.1:p.Ala430fs
LRG_220:g.14025del
NC_000001.10:g.45797118del
NM_001128425.1:c.1297delG
NR_146882.2:n.1441del
NR_146883.2:n.1290del

Protein change:

A290fs

Links:

dbSNP: rs1553125622

NCBI 1000 Genomes Browser:

rs1553125622

Molecular consequence:

NM_001048171.2:c.1213del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001048172.2:c.1216del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001048173.2:c.1213del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001048174.2:c.1213del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001128425.2:c.1297del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001293190.2:c.1258del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001293191.2:c.1246del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001293192.2:c.937del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001293195.2:c.1213del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001293196.2:c.937del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001350650.2:c.868del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001350651.2:c.868del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_012222.3:c.1288del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_146882.2:n.1441del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146883.2:n.1290del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

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high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform X1 [Hippog...
high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform X1 [Hippoglossus hippoglossus]
gi|1843676149|ref|XP_034429274.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000673994	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (May 23, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000673994

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(May 23, 2016)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000673994.5

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

Description

The c.1297delG pathogenic mutation, located in coding exon 13 of the MUTYH gene, results from a deletion of one nucleotide at position 1297, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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

Last Updated: Sep 29, 2024

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