NM_001048174.2(MUTYH):c.1253_1255del (p.Phe418del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 19, 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:: RCV001755974.2

Allele description [Variation Report for NM_001048174.2(MUTYH):c.1253_1255del (p.Phe418del)]

NM_001048174.2(MUTYH):c.1253_1255del (p.Phe418del)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

1p34.1

Genomic location:

Preferred name:

NM_001048174.2(MUTYH):c.1253_1255del (p.Phe418del)

HGVS:

NC_000001.11:g.45331321_45331323del
NG_008189.1:g.14150_14152del
NM_001048171.2:c.1253_1255del
NM_001048172.2:c.1256_1258del
NM_001048173.2:c.1253_1255del
NM_001048174.2:c.1253_1255delMANE SELECT
NM_001128425.2:c.1337_1339del
NM_001293190.2:c.1298_1300del
NM_001293191.2:c.1286_1288del
NM_001293192.2:c.977_979del
NM_001293195.2:c.1253_1255del
NM_001293196.2:c.977_979del
NM_001350650.2:c.908_910del
NM_001350651.2:c.908_910del
NM_012222.3:c.1328_1330del
NP_001041636.2:p.Phe418del
NP_001041637.1:p.Phe419del
NP_001041638.1:p.Phe418del
NP_001041639.1:p.Phe418del
NP_001121897.1:p.Phe446del
NP_001121897.1:p.Phe446del
NP_001280119.1:p.Phe433del
NP_001280120.1:p.Phe429del
NP_001280121.1:p.Phe326del
NP_001280124.1:p.Phe418del
NP_001280125.1:p.Phe326del
NP_001337579.1:p.Phe303del
NP_001337580.1:p.Phe303del
NP_036354.1:p.Phe443del
LRG_220t1:c.1337_1339del
LRG_220:g.14150_14152del
LRG_220p1:p.Phe446del
NC_000001.10:g.45796991_45796993del
NC_000001.10:g.45796993_45796995del
NM_001128425.1:c.1337_1339del
NM_001128425.1:c.1337_1339delTCT
NR_146882.2:n.1481_1483del
NR_146883.2:n.1330_1332del

Protein change:

F303del

Links:

dbSNP: rs747232389

NCBI 1000 Genomes Browser:

rs747232389

Molecular consequence:

NM_001048171.2:c.1253_1255del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001048172.2:c.1256_1258del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001048173.2:c.1253_1255del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001048174.2:c.1253_1255del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001128425.2:c.1337_1339del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001293190.2:c.1298_1300del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001293191.2:c.1286_1288del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001293192.2:c.977_979del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001293195.2:c.1253_1255del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001293196.2:c.977_979del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001350650.2:c.908_910del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001350651.2:c.908_910del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_012222.3:c.1328_1330del - inframe_deletion - [Sequence Ontology: SO:0001822]
NR_146882.2:n.1481_1483del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146883.2:n.1330_1332del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001997353	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Dec 19, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001997353

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Dec 19, 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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001997353.2

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

Description

In-frame deletion of 1 amino acid in a non-repeat region; Located in a critical functional domain: NUDIX domain (Ruggieri 2013); Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek 2016)

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

Last Updated: Sep 29, 2024

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