NM_000179.3(MSH6):c.2111C>A (p.Ala704Asp) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 17, 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:: RCV003182651.2

Allele description [Variation Report for NM_000179.3(MSH6):c.2111C>A (p.Ala704Asp)]

NM_000179.3(MSH6):c.2111C>A (p.Ala704Asp)

Gene:

MSH6:mutS homolog 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.2111C>A (p.Ala704Asp)

HGVS:

NC_000002.12:g.47800094C>A
NG_007111.1:g.21948C>A
NM_000179.3:c.2111C>AMANE SELECT
NM_001281492.2:c.1721C>A
NM_001281493.2:c.1205C>A
NM_001281494.2:c.1205C>A
NM_001406795.1:c.2207C>A
NM_001406796.1:c.2111C>A
NM_001406797.1:c.1814C>A
NM_001406798.1:c.2111C>A
NM_001406799.1:c.1586C>A
NM_001406800.1:c.2111C>A
NM_001406801.1:c.1814C>A
NM_001406802.1:c.2207C>A
NM_001406803.1:c.2111C>A
NM_001406804.1:c.2033C>A
NM_001406805.1:c.1814C>A
NM_001406806.1:c.1586C>A
NM_001406807.1:c.1586C>A
NM_001406808.1:c.2111C>A
NM_001406809.1:c.2111C>A
NM_001406811.1:c.1205C>A
NM_001406812.1:c.1205C>A
NM_001406813.1:c.2117C>A
NM_001406814.1:c.1205C>A
NM_001406815.1:c.1205C>A
NM_001406816.1:c.1205C>A
NM_001406817.1:c.1606+505C>A
NM_001406818.1:c.1814C>A
NM_001406819.1:c.1814C>A
NM_001406820.1:c.1814C>A
NM_001406821.1:c.1814C>A
NM_001406822.1:c.1814C>A
NM_001406823.1:c.1205C>A
NM_001406824.1:c.1814C>A
NM_001406825.1:c.1814C>A
NM_001406826.1:c.1943C>A
NM_001406827.1:c.1814C>A
NM_001406828.1:c.1814C>A
NM_001406829.1:c.1205C>A
NM_001406830.1:c.1814C>A
NM_001407362.1:c.628-572C>A
NP_000170.1:p.Ala704Asp
NP_000170.1:p.Ala704Asp
NP_001268421.1:p.Ala574Asp
NP_001268422.1:p.Ala402Asp
NP_001268423.1:p.Ala402Asp
NP_001393724.1:p.Ala736Asp
NP_001393725.1:p.Ala704Asp
NP_001393726.1:p.Ala605Asp
NP_001393727.1:p.Ala704Asp
NP_001393728.1:p.Ala529Asp
NP_001393729.1:p.Ala704Asp
NP_001393730.1:p.Ala605Asp
NP_001393731.1:p.Ala736Asp
NP_001393732.1:p.Ala704Asp
NP_001393733.1:p.Ala678Asp
NP_001393734.1:p.Ala605Asp
NP_001393735.1:p.Ala529Asp
NP_001393736.1:p.Ala529Asp
NP_001393737.1:p.Ala704Asp
NP_001393738.1:p.Ala704Asp
NP_001393740.1:p.Ala402Asp
NP_001393741.1:p.Ala402Asp
NP_001393742.1:p.Ala706Asp
NP_001393743.1:p.Ala402Asp
NP_001393744.1:p.Ala402Asp
NP_001393745.1:p.Ala402Asp
NP_001393747.1:p.Ala605Asp
NP_001393748.1:p.Ala605Asp
NP_001393749.1:p.Ala605Asp
NP_001393750.1:p.Ala605Asp
NP_001393751.1:p.Ala605Asp
NP_001393752.1:p.Ala402Asp
NP_001393753.1:p.Ala605Asp
NP_001393754.1:p.Ala605Asp
NP_001393755.1:p.Ala648Asp
NP_001393756.1:p.Ala605Asp
NP_001393757.1:p.Ala605Asp
NP_001393758.1:p.Ala402Asp
NP_001393759.1:p.Ala605Asp
LRG_219t1:c.2111C>A
LRG_219:g.21948C>A
LRG_219p1:p.Ala704Asp
NC_000002.11:g.48027233C>A
NM_000179.2:c.2111C>A
NR_176256.1:n.973C>A
NR_176257.1:n.2200C>A
NR_176258.1:n.2200C>A
NR_176259.1:n.2200C>A
NR_176261.1:n.2200C>A

Protein change:

A402D

Molecular consequence:

NM_001406817.1:c.1606+505C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407362.1:c.628-572C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000179.3:c.2111C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001281492.2:c.1721C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001281493.2:c.1205C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001281494.2:c.1205C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406795.1:c.2207C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406796.1:c.2111C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406797.1:c.1814C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406798.1:c.2111C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406799.1:c.1586C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406800.1:c.2111C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406801.1:c.1814C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406802.1:c.2207C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406803.1:c.2111C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406804.1:c.2033C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406805.1:c.1814C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406806.1:c.1586C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406807.1:c.1586C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406808.1:c.2111C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406809.1:c.2111C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406811.1:c.1205C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406812.1:c.1205C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406813.1:c.2117C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406814.1:c.1205C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406815.1:c.1205C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406816.1:c.1205C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406818.1:c.1814C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406819.1:c.1814C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406820.1:c.1814C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406821.1:c.1814C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406822.1:c.1814C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406823.1:c.1205C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406824.1:c.1814C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406825.1:c.1814C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406826.1:c.1943C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406827.1:c.1814C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406828.1:c.1814C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406829.1:c.1205C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406830.1:c.1814C>A - missense variant - [Sequence Ontology: SO:0001583]
NR_176256.1:n.973C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176257.1:n.2200C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176258.1:n.2200C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176259.1:n.2200C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176261.1:n.2200C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003867480	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 17, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003867480

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 17, 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, SCV003867480.2

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

Description

The p.A704D variant (also known as c.2111C>A), located in coding exon 4 of the MSH6 gene, results from a C to A substitution at nucleotide position 2111. The alanine at codon 704 is replaced by aspartic acid, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. 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: May 1, 2024

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