NM_001048174.2(MUTYH):c.1102+1G>A AND not provided

Germline classification:: Likely pathogenic (3 submissions)
Last evaluated:: Aug 15, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001353653.4

Allele description [Variation Report for NM_001048174.2(MUTYH):c.1102+1G>A]

NM_001048174.2(MUTYH):c.1102+1G>A

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.1102+1G>A

HGVS:

NC_000001.11:g.45331660C>T
NG_008189.1:g.13811G>A
NM_001048171.2:c.1102+1G>A
NM_001048172.2:c.1105+1G>A
NM_001048173.2:c.1102+1G>A
NM_001048174.2:c.1102+1G>AMANE SELECT
NM_001128425.2:c.1186+1G>A
NM_001293190.2:c.1147+1G>A
NM_001293191.2:c.1135+1G>A
NM_001293192.2:c.826+1G>A
NM_001293195.2:c.1102+1G>A
NM_001293196.2:c.826+1G>A
NM_001350650.2:c.757+1G>A
NM_001350651.2:c.757+1G>A
NM_001407069.1:c.1135+1G>A
NM_001407070.1:c.1102+1G>A
NM_001407071.1:c.1105+1G>A
NM_001407072.1:c.1102+1G>A
NM_001407073.1:c.1102+1G>A
NM_001407075.1:c.1018+1G>A
NM_001407077.1:c.1135+1G>A
NM_001407078.1:c.1105+1G>A
NM_001407079.1:c.1063+1G>A
NM_001407080.1:c.1060+1G>A
NM_001407081.1:c.1102+1G>A
NM_001407082.1:c.757+1G>A
NM_001407083.1:c.1144+1G>A
NM_001407085.1:c.1144+1G>A
NM_001407086.1:c.1105+1G>A
NM_001407087.1:c.1123+1G>A
NM_001407088.1:c.1102+1G>A
NM_001407089.1:c.1102+1G>A
NM_001407091.1:c.826+1G>A
NM_012222.3:c.1177+1G>A
LRG_220t1:c.1186+1G>A
LRG_220:g.13811G>A
NC_000001.10:g.45797332C>T
NM_001128425.1:c.1186+1G>A

Links:

dbSNP: rs587781337

NCBI 1000 Genomes Browser:

rs587781337

Molecular consequence:

NM_001048171.2:c.1102+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001048172.2:c.1105+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001048173.2:c.1102+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001048174.2:c.1102+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001128425.2:c.1186+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001293190.2:c.1147+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001293191.2:c.1135+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001293192.2:c.826+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001293195.2:c.1102+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001293196.2:c.826+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001350650.2:c.757+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001350651.2:c.757+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407069.1:c.1135+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407070.1:c.1102+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407071.1:c.1105+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407072.1:c.1102+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407073.1:c.1102+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407075.1:c.1018+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407077.1:c.1135+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407078.1:c.1105+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407079.1:c.1063+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407080.1:c.1060+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407081.1:c.1102+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407082.1:c.757+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407083.1:c.1144+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407085.1:c.1144+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407086.1:c.1105+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407087.1:c.1123+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407088.1:c.1102+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407089.1:c.1102+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407091.1:c.826+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_012222.3:c.1177+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Dryopteris gracilis (4)
Identical Protein Groups
MULTISPECIES: transaldolase [Mycobacterium]
MULTISPECIES: transaldolase [Mycobacterium]
gi|490010026|ref|WP_003912809.1|

Protein
Homo sapiens long intergenic non-protein coding RNA 632 (LINC00632), transcript ...
Homo sapiens long intergenic non-protein coding RNA 632 (LINC00632), transcript variant 10, long non-coding RNA
gi|2675180289|ref|NR_190227.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000592710	Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR) See additional submitters Franklin by Genoox	no assertion criteria provided	Uncertain significance	unknown	clinical testing
SCV002568748	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Aug 25, 2022)	germline	clinical testing	Citation Link,
SCV004024934	Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Aug 15, 2023)	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

SCV000592710

Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided

Uncertain significance

unknown

clinical testing

SCV002568748

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Aug 25, 2022)

germline

clinical testing

Citation Link,

SCV004024934

Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Aug 15, 2023)

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
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	yes	0	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 Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000592710.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	0	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		0	not provided	not provided	not provided

From GeneDx, SCV002568748.2

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

Description

Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 16879101, 20816984, 23108399, 28152038)

#	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

From Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV004024934.1

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

#	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: Nov 10, 2024

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