NM_000249.4(MLH1):c.1029C>G (p.Tyr343Ter) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 9, 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:: RCV000679263.5

Allele description [Variation Report for NM_000249.4(MLH1):c.1029C>G (p.Tyr343Ter)]

NM_000249.4(MLH1):c.1029C>G (p.Tyr343Ter)

Gene:

MLH1:mutL homolog 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000249.4(MLH1):c.1029C>G (p.Tyr343Ter)

HGVS:

NC_000003.12:g.37020454C>G
NG_007109.2:g.32105C>G
NM_000249.4:c.1029C>GMANE SELECT
NM_001167617.3:c.735C>G
NM_001167618.3:c.306C>G
NM_001167619.3:c.306C>G
NM_001258271.2:c.1029C>G
NM_001258273.2:c.306C>G
NM_001258274.3:c.306C>G
NM_001354615.2:c.306C>G
NM_001354616.2:c.306C>G
NM_001354617.2:c.306C>G
NM_001354618.2:c.306C>G
NM_001354619.2:c.306C>G
NM_001354620.2:c.735C>G
NM_001354621.2:c.6C>G
NM_001354622.2:c.6C>G
NM_001354623.2:c.6C>G
NM_001354624.2:c.-36-5183C>G
NM_001354625.2:c.-36-5183C>G
NM_001354626.2:c.-36-5183C>G
NM_001354627.2:c.-36-5183C>G
NM_001354628.2:c.1029C>G
NM_001354629.2:c.930C>G
NM_001354630.2:c.1029C>G
NP_000240.1:p.Tyr343Ter
NP_000240.1:p.Tyr343Ter
NP_001161089.1:p.Tyr245Ter
NP_001161090.1:p.Tyr102Ter
NP_001161091.1:p.Tyr102Ter
NP_001245200.1:p.Tyr343Ter
NP_001245202.1:p.Tyr102Ter
NP_001245203.1:p.Tyr102Ter
NP_001341544.1:p.Tyr102Ter
NP_001341545.1:p.Tyr102Ter
NP_001341546.1:p.Tyr102Ter
NP_001341547.1:p.Tyr102Ter
NP_001341548.1:p.Tyr102Ter
NP_001341549.1:p.Tyr245Ter
NP_001341550.1:p.Tyr2Ter
NP_001341551.1:p.Tyr2Ter
NP_001341552.1:p.Tyr2Ter
NP_001341557.1:p.Tyr343Ter
NP_001341558.1:p.Tyr310Ter
NP_001341559.1:p.Tyr343Ter
LRG_216t1:c.1029C>G
LRG_216:g.32105C>G
LRG_216p1:p.Tyr343Ter
NC_000003.11:g.37061945C>G
NM_000249.3:c.1029C>G

Protein change:

Y102*

Links:

dbSNP: rs1553648220

NCBI 1000 Genomes Browser:

rs1553648220

Molecular consequence:

NM_001354624.2:c.-36-5183C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001354625.2:c.-36-5183C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001354626.2:c.-36-5183C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001354627.2:c.-36-5183C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000249.4:c.1029C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001167617.3:c.735C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001167618.3:c.306C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001167619.3:c.306C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001258271.2:c.1029C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001258273.2:c.306C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001258274.3:c.306C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001354615.2:c.306C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001354616.2:c.306C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001354617.2:c.306C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001354618.2:c.306C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001354619.2:c.306C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001354620.2:c.735C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001354621.2:c.6C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001354622.2:c.6C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001354623.2:c.6C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001354628.2:c.1029C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001354629.2:c.930C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001354630.2:c.1029C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

RNA-binding protein 47 isoform X2 [Homo sapiens]
RNA-binding protein 47 isoform X2 [Homo sapiens]
gi|2462597630|ref|XP_054206203.1|

Protein
PREDICTED: Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant...
PREDICTED: Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant X21, mRNA
gi|2462597633|ref|XM_054350230.1|

Nucleotide
RNA-binding protein 47 isoform X3 [Homo sapiens]
RNA-binding protein 47 isoform X3 [Homo sapiens]
gi|1034640191|ref|XP_016863799.1|

Protein
Homo sapiens helios 1+5a,5b isoform (ZNFN1A2) mRNA, complete cds
Homo sapiens helios 1+5a,5b isoform (ZNFN1A2) mRNA, complete cds
gi|46519015|gb|AY587064.1|

Nucleotide

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
SCV000805940	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jun 9, 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

SCV000805940

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jun 9, 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	unknown	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 PreventionGenetics, part of Exact Sciences, SCV000805940.1

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine