NM_000249.4(MLH1):c.191A>G (p.Asn64Ser) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 15, 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:: RCV000584818.3

Allele description [Variation Report for NM_000249.4(MLH1):c.191A>G (p.Asn64Ser)]

NM_000249.4(MLH1):c.191A>G (p.Asn64Ser)

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.191A>G (p.Asn64Ser)

Other names:

p.N64S:AAT>AGT

HGVS:

NC_000003.12:g.36996693A>G
NG_007109.2:g.8344A>G
NG_008418.1:g.1612T>C
NM_000249.4:c.191A>GMANE SELECT
NM_001167617.3:c.-99A>G
NM_001167618.3:c.-533A>G
NM_001167619.3:c.-441A>G
NM_001258271.2:c.191A>G
NM_001258273.2:c.-517+3030A>G
NM_001258274.3:c.-678A>G
NM_001354615.2:c.-436A>G
NM_001354616.2:c.-441A>G
NM_001354617.2:c.-533A>G
NM_001354618.2:c.-533A>G
NM_001354619.2:c.-533A>G
NM_001354620.2:c.-99A>G
NM_001354621.2:c.-626A>G
NM_001354622.2:c.-739A>G
NM_001354623.2:c.-723+2803A>G
NM_001354624.2:c.-636A>G
NM_001354625.2:c.-539A>G
NM_001354626.2:c.-636A>G
NM_001354627.2:c.-636A>G
NM_001354628.2:c.191A>G
NM_001354629.2:c.191A>G
NM_001354630.2:c.191A>G
NP_000240.1:p.Asn64Ser
NP_000240.1:p.Asn64Ser
NP_001245200.1:p.Asn64Ser
NP_001341557.1:p.Asn64Ser
NP_001341558.1:p.Asn64Ser
NP_001341559.1:p.Asn64Ser
LRG_216t1:c.191A>G
LRG_216:g.8344A>G
LRG_216p1:p.Asn64Ser
NC_000003.11:g.37038184A>G
NM_000249.3:c.191A>G
P40692:p.Asn64Ser

Protein change:

N64S

Links:

UniProtKB: P40692#VAR_004438; dbSNP: rs63750952

NCBI 1000 Genomes Browser:

rs63750952

Molecular consequence:

NM_001167617.3:c.-99A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001167618.3:c.-533A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001167619.3:c.-441A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001258274.3:c.-678A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354615.2:c.-436A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354616.2:c.-441A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354617.2:c.-533A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354618.2:c.-533A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354619.2:c.-533A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354620.2:c.-99A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354621.2:c.-626A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354622.2:c.-739A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354624.2:c.-636A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354625.2:c.-539A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354626.2:c.-636A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354627.2:c.-636A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001258273.2:c.-517+3030A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001354623.2:c.-723+2803A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000249.4:c.191A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001258271.2:c.191A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354628.2:c.191A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354629.2:c.191A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354630.2:c.191A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Global developmental delay (DD)
Identifiers:: MedGen: C0557874; Human Phenotype Ontology: HP:0001263

Name:: Choreoathetosis
Identifiers:: MedGen: C0085583; Human Phenotype Ontology: HP:0001266

Name:: Aqueductal stenosis
Identifiers:: MedGen: C0266476; Human Phenotype Ontology: HP:0002410

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000692543	Center for Personalized Medicine, Children's Hospital Los Angeles	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 15, 2016)	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

SCV000692543

Center for Personalized Medicine, Children's Hospital Los Angeles

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 15, 2016)

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
Caucasian,Non-Hispanic,unspecified	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 Center for Personalized Medicine, Children's Hospital Los Angeles, SCV000692543.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian,Non-Hispanic,unspecified	not provided	not provided	not provided	clinical testing (GTR000552474.2)	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	validation	(GTR000552474.2)	not provided	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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