NM_000249.4(MLH1):c.629C>A (p.Ala210Asp) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 25, 2024
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:: RCV004046201.1

Allele description [Variation Report for NM_000249.4(MLH1):c.629C>A (p.Ala210Asp)]

NM_000249.4(MLH1):c.629C>A (p.Ala210Asp)

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.629C>A (p.Ala210Asp)

HGVS:

NC_000003.12:g.37012051C>A
NG_007109.2:g.23702C>A
NM_000249.3:c.629C>A
NM_000249.4:c.629C>AMANE SELECT
NM_001167617.3:c.335C>A
NM_001167618.3:c.-95C>A
NM_001167619.3:c.-95C>A
NM_001258271.2:c.629C>A
NM_001258273.2:c.-95C>A
NM_001258274.3:c.-95C>A
NM_001354615.2:c.-95C>A
NM_001354616.2:c.-95C>A
NM_001354617.2:c.-95C>A
NM_001354618.2:c.-95C>A
NM_001354619.2:c.-95C>A
NM_001354620.2:c.335C>A
NM_001354621.2:c.-188C>A
NM_001354622.2:c.-301C>A
NM_001354623.2:c.-301C>A
NM_001354624.2:c.-198C>A
NM_001354625.2:c.-198C>A
NM_001354626.2:c.-198C>A
NM_001354627.2:c.-198C>A
NM_001354628.2:c.629C>A
NM_001354629.2:c.530C>A
NM_001354630.2:c.629C>A
NP_000240.1:p.Ala210Asp
NP_001161089.1:p.Ala112Asp
NP_001245200.1:p.Ala210Asp
NP_001341549.1:p.Ala112Asp
NP_001341557.1:p.Ala210Asp
NP_001341558.1:p.Ala177Asp
NP_001341559.1:p.Ala210Asp
LRG_216t1:c.629C>A
LRG_216:g.23702C>A
NC_000003.11:g.37053542C>A

Protein change:

A112D

Links:

dbSNP: rs2125808775

NCBI 1000 Genomes Browser:

rs2125808775

Molecular consequence:

NM_001167618.3:c.-95C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001167619.3:c.-95C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001258273.2:c.-95C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001258274.3:c.-95C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354615.2:c.-95C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354616.2:c.-95C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354617.2:c.-95C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354618.2:c.-95C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354619.2:c.-95C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354621.2:c.-188C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354622.2:c.-301C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354623.2:c.-301C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354624.2:c.-198C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354625.2:c.-198C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354626.2:c.-198C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354627.2:c.-198C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000249.4:c.629C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001167617.3:c.335C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001258271.2:c.629C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354620.2:c.335C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354628.2:c.629C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354629.2:c.530C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354630.2:c.629C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

Clear Turn Off Turn On

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
SCV005033264	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 25, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005033264

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 25, 2024)

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, SCV005033264.1

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

Description

The p.A210D variant (also known as c.629C>A), located in coding exon 8 of the MLH1 gene, results from a C to A substitution at nucleotide position 629. The alanine at codon 210 is replaced by aspartic acid, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, 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: Sep 29, 2024

ClinVar

Relating variation to medicine