NM_001040108.2(MLH3):c.2257T>G (p.Ser753Ala) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 21, 2023
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:: RCV004331429.1

Allele description [Variation Report for NM_001040108.2(MLH3):c.2257T>G (p.Ser753Ala)]

NM_001040108.2(MLH3):c.2257T>G (p.Ser753Ala)

Gene:

MLH3:mutL homolog 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q24.3

Genomic location:

Preferred name:

NM_001040108.2(MLH3):c.2257T>G (p.Ser753Ala)

Other names:

p.Ser753Ala

HGVS:

NC_000014.9:g.75047399A>C
NG_008649.1:g.9134T>G
NM_001040108.2:c.2257T>GMANE SELECT
NM_014381.3:c.2257T>G
NP_001035197.1:p.Ser753Ala
NP_001035197.1:p.Ser753Ala
NP_055196.2:p.Ser753Ala
LRG_217t1:c.2257T>G
LRG_217:g.9134T>G
LRG_217p1:p.Ser753Ala
NC_000014.8:g.75514102A>C
NM_001040108.1:c.2257T>G

Protein change:

S753A

Molecular consequence:

NM_001040108.2:c.2257T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_014381.3:c.2257T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003998460	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 21, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003998460

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 21, 2023)

germline

clinical testing

Citation Link

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

Details of each submission

From Ambry Genetics, SCV003998460.2

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

Description

The p.S753A variant (also known as c.2257T>G), located in coding exon 1 of the MLH3 gene, results from a T to G substitution at nucleotide position 2257. The serine at codon 753 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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 30, 2024

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