NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu) AND B lymphoblastic leukemia lymphoma, no ICD-O subtype

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 4, 2017
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:: RCV000722033.10

Allele description [Variation Report for NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)]

NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.1

Genomic location:

Preferred name:

NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)

HGVS:

NC_000001.11:g.45331529G>A
NG_008189.1:g.13942C>T
NM_001048171.2:c.1130C>T
NM_001048172.2:c.1133C>T
NM_001048173.2:c.1130C>T
NM_001048174.2:c.1130C>TMANE SELECT
NM_001128425.2:c.1214C>T
NM_001293190.2:c.1175C>T
NM_001293191.2:c.1163C>T
NM_001293192.2:c.854C>T
NM_001293195.2:c.1130C>T
NM_001293196.2:c.854C>T
NM_001350650.2:c.785C>T
NM_001350651.2:c.785C>T
NM_012222.3:c.1205C>T
NP_001041636.1:p.Pro391Leu
NP_001041636.2:p.Pro377Leu
NP_001041637.1:p.Pro378Leu
NP_001041638.1:p.Pro377Leu
NP_001041639.1:p.Pro377Leu
NP_001121897.1:p.Pro405Leu
NP_001121897.1:p.Pro405Leu
NP_001280119.1:p.Pro392Leu
NP_001280120.1:p.Pro388Leu
NP_001280121.1:p.Pro285Leu
NP_001280124.1:p.Pro377Leu
NP_001280125.1:p.Pro285Leu
NP_001337579.1:p.Pro262Leu
NP_001337580.1:p.Pro262Leu
NP_036354.1:p.Pro402Leu
NP_036354.1:p.Pro402Leu
LRG_220t1:c.1214C>T
LRG_220:g.13942C>T
LRG_220p1:p.Pro405Leu
NC_000001.10:g.45797201G>A
NM_001048171.1:c.1172C>T
NM_001128425.1:c.1214C>T
NM_012222.2:c.1205C>T
NR_146882.2:n.1358C>T
NR_146883.2:n.1207C>T
p.P405L

Protein change:

P262L

Links:

dbSNP: rs529008617

NCBI 1000 Genomes Browser:

rs529008617

Molecular consequence:

NM_001048171.2:c.1130C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001048172.2:c.1133C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001048173.2:c.1130C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001048174.2:c.1130C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001128425.2:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001293190.2:c.1175C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001293191.2:c.1163C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001293192.2:c.854C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001293195.2:c.1130C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001293196.2:c.854C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001350650.2:c.785C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001350651.2:c.785C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_012222.3:c.1205C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_146882.2:n.1358C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146883.2:n.1207C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: B lymphoblastic leukemia lymphoma, no ICD-O subtype
Identifiers:: MedGen: CN257934

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000853210	St. Jude Molecular Pathology, St. Jude Children's Research Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 4, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000853210

St. Jude Molecular Pathology, St. Jude Children's Research Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 4, 2017)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From St. Jude Molecular Pathology, St. Jude Children's Research Hospital, SCV000853210.1

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

Description

This is a missense alteration in which a C is replaced by a T at coding nucleotide 1214 and is predicted to change a Proline to a Leucine at amino acid codon 405. Classification criteria: PS3, PM2, PM3, PP3, PP5.

#	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: Jan 13, 2025

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