NM_000249.4(MLH1):c.1757C>A (p.Ala586Asp) AND not specified

delete

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 7, 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:: RCV000508407.2

Allele description

NM_000249.4(MLH1):c.1757C>A (p.Ala586Asp)

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.1757C>A (p.Ala586Asp)

HGVS:

NC_000003.12:g.37047544C>A
NG_007109.2:g.59195C>A
NM_000249.4:c.1757C>AMANE SELECT
NM_001167617.3:c.1463C>A
NM_001167618.3:c.1034C>A
NM_001167619.3:c.1034C>A
NM_001258271.2:c.1757C>A
NM_001258273.2:c.1034C>A
NM_001258274.3:c.1034C>A
NM_001354615.2:c.1034C>A
NM_001354616.2:c.1034C>A
NM_001354617.2:c.1034C>A
NM_001354618.2:c.1034C>A
NM_001354619.2:c.1034C>A
NM_001354620.2:c.1463C>A
NM_001354621.2:c.734C>A
NM_001354622.2:c.734C>A
NM_001354623.2:c.734C>A
NM_001354624.2:c.683C>A
NM_001354625.2:c.683C>A
NM_001354626.2:c.683C>A
NM_001354627.2:c.683C>A
NM_001354628.2:c.1757C>A
NM_001354629.2:c.1658C>A
NM_001354630.2:c.1732-973C>A
NP_000240.1:p.Ala586Asp
NP_000240.1:p.Ala586Asp
NP_001161089.1:p.Ala488Asp
NP_001161090.1:p.Ala345Asp
NP_001161091.1:p.Ala345Asp
NP_001245200.1:p.Ala586Asp
NP_001245202.1:p.Ala345Asp
NP_001245203.1:p.Ala345Asp
NP_001341544.1:p.Ala345Asp
NP_001341545.1:p.Ala345Asp
NP_001341546.1:p.Ala345Asp
NP_001341547.1:p.Ala345Asp
NP_001341548.1:p.Ala345Asp
NP_001341549.1:p.Ala488Asp
NP_001341550.1:p.Ala245Asp
NP_001341551.1:p.Ala245Asp
NP_001341552.1:p.Ala245Asp
NP_001341553.1:p.Ala228Asp
NP_001341554.1:p.Ala228Asp
NP_001341555.1:p.Ala228Asp
NP_001341556.1:p.Ala228Asp
NP_001341557.1:p.Ala586Asp
NP_001341558.1:p.Ala553Asp
LRG_216t1:c.1757C>A
LRG_216:g.59195C>A
LRG_216p1:p.Ala586Asp
NC_000003.11:g.37089035C>A
NM_000249.3:c.1757C>A

Protein change:

A228D

Links:

dbSNP: rs63750587

NCBI 1000 Genomes Browser:

rs63750587

Molecular consequence:

NM_001354630.2:c.1732-973C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000249.4:c.1757C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001167617.3:c.1463C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001167618.3:c.1034C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001167619.3:c.1034C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001258271.2:c.1757C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001258273.2:c.1034C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001258274.3:c.1034C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354615.2:c.1034C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354616.2:c.1034C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354617.2:c.1034C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354618.2:c.1034C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354619.2:c.1034C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354620.2:c.1463C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354621.2:c.734C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354622.2:c.734C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354623.2:c.734C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354624.2:c.683C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354625.2:c.683C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354626.2:c.683C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354627.2:c.683C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354628.2:c.1757C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354629.2:c.1658C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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4-hydroxybenzoyl-CoA thioesterase [Haliangium ochraceum DSM 14365]
4-hydroxybenzoyl-CoA thioesterase [Haliangium ochraceum DSM 14365]
gi|262077353|gnl|jgi|Hoch_0692|gb|A 22.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000601366	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Uncertain significance (Sep 7, 2016)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 16395668, 12655562, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000601366

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Uncertain significance
(Sep 7, 2016)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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

Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.

Auclair J, Busine MP, Navarro C, Ruano E, Montmain G, Desseigne F, Saurin JC, Lasset C, Bonadona V, Giraud S, Puisieux A, Wang Q.

Hum Mutat. 2006 Feb;27(2):145-54.

PubMed [citation]

PMID:: 16395668

Identification of six novel MSH2 and MLH1 germline mutations in HNPCC.

Krüger S, Plaschke J, Jeske B, Görgens H, Pistorius SR, Bier A, Kreuz FR, Theissig F, Aust DE, Saeger HD, Schackert HK.

Hum Mutat. 2003 Apr;21(4):445-6.

PubMed [citation]

PMID:: 12655562

See all PubMed Citations (3)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000601366.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	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: Jul 23, 2024

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