NM_000179.3(MSH6):c.2710G>C (p.Asp904His) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 10, 2021
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:: RCV002431195.2

Allele description [Variation Report for NM_000179.3(MSH6):c.2710G>C (p.Asp904His)]

NM_000179.3(MSH6):c.2710G>C (p.Asp904His)

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.2710G>C (p.Asp904His)

HGVS:

NC_000002.12:g.47800693G>C
NG_007111.1:g.22547G>C
NM_000179.3:c.2710G>CMANE SELECT
NM_001281492.2:c.2320G>C
NM_001281493.2:c.1804G>C
NM_001281494.2:c.1804G>C
NM_001406795.1:c.2806G>C
NM_001406796.1:c.2710G>C
NM_001406797.1:c.2413G>C
NM_001406798.1:c.2710G>C
NM_001406799.1:c.2185G>C
NM_001406800.1:c.2710G>C
NM_001406801.1:c.2413G>C
NM_001406802.1:c.2806G>C
NM_001406804.1:c.2632G>C
NM_001406805.1:c.2413G>C
NM_001406806.1:c.2185G>C
NM_001406807.1:c.2185G>C
NM_001406808.1:c.2710G>C
NM_001406809.1:c.2710G>C
NM_001406811.1:c.1804G>C
NM_001406812.1:c.1804G>C
NM_001406813.1:c.2716G>C
NM_001406814.1:c.1804G>C
NM_001406815.1:c.1804G>C
NM_001406816.1:c.1804G>C
NM_001406818.1:c.2413G>C
NM_001406819.1:c.2413G>C
NM_001406820.1:c.2413G>C
NM_001406821.1:c.2413G>C
NM_001406822.1:c.2413G>C
NM_001406823.1:c.1804G>C
NM_001406824.1:c.2413G>C
NM_001406825.1:c.2413G>C
NM_001406826.1:c.2542G>C
NM_001406827.1:c.2413G>C
NM_001406828.1:c.2413G>C
NM_001406829.1:c.1804G>C
NM_001406830.1:c.2413G>C
NM_001407362.1:c.655G>C
NP_000170.1:p.Asp904His
NP_000170.1:p.Asp904His
NP_001268421.1:p.Asp774His
NP_001268422.1:p.Asp602His
NP_001268423.1:p.Asp602His
NP_001393724.1:p.Asp936His
NP_001393725.1:p.Asp904His
NP_001393726.1:p.Asp805His
NP_001393727.1:p.Asp904His
NP_001393728.1:p.Asp729His
NP_001393729.1:p.Asp904His
NP_001393730.1:p.Asp805His
NP_001393731.1:p.Asp936His
NP_001393733.1:p.Asp878His
NP_001393734.1:p.Asp805His
NP_001393735.1:p.Asp729His
NP_001393736.1:p.Asp729His
NP_001393737.1:p.Asp904His
NP_001393738.1:p.Asp904His
NP_001393740.1:p.Asp602His
NP_001393741.1:p.Asp602His
NP_001393742.1:p.Asp906His
NP_001393743.1:p.Asp602His
NP_001393744.1:p.Asp602His
NP_001393745.1:p.Asp602His
NP_001393747.1:p.Asp805His
NP_001393748.1:p.Asp805His
NP_001393749.1:p.Asp805His
NP_001393750.1:p.Asp805His
NP_001393751.1:p.Asp805His
NP_001393752.1:p.Asp602His
NP_001393753.1:p.Asp805His
NP_001393754.1:p.Asp805His
NP_001393755.1:p.Asp848His
NP_001393756.1:p.Asp805His
NP_001393757.1:p.Asp805His
NP_001393758.1:p.Asp602His
NP_001393759.1:p.Asp805His
NP_001394291.1:p.Asp219His
LRG_219t1:c.2710G>C
LRG_219:g.22547G>C
LRG_219p1:p.Asp904His
NC_000002.11:g.48027832G>C
NM_000179.2:c.2710G>C
NR_176256.1:n.1572G>C
NR_176257.1:n.2799G>C
NR_176258.1:n.2799G>C
NR_176259.1:n.2799G>C
NR_176260.1:n.744G>C
NR_176261.1:n.2799G>C

Protein change:

D219H

Molecular consequence:

NM_000179.3:c.2710G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001281492.2:c.2320G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001281493.2:c.1804G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001281494.2:c.1804G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406795.1:c.2806G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406796.1:c.2710G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406797.1:c.2413G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406798.1:c.2710G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406799.1:c.2185G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406800.1:c.2710G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406801.1:c.2413G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406802.1:c.2806G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406804.1:c.2632G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406805.1:c.2413G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406806.1:c.2185G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406807.1:c.2185G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406808.1:c.2710G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406809.1:c.2710G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406811.1:c.1804G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406812.1:c.1804G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406813.1:c.2716G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406814.1:c.1804G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406815.1:c.1804G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406816.1:c.1804G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406818.1:c.2413G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406819.1:c.2413G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406820.1:c.2413G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406821.1:c.2413G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406822.1:c.2413G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406823.1:c.1804G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406824.1:c.2413G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406825.1:c.2413G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406826.1:c.2542G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406827.1:c.2413G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406828.1:c.2413G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406829.1:c.1804G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406830.1:c.2413G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407362.1:c.655G>C - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002740995	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 10, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002740995

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 10, 2021)

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, SCV002740995.2

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

Description

The p.D904H variant (also known as c.2710G>C), located in coding exon 4 of the MSH6 gene, results from a G to C substitution at nucleotide position 2710. The aspartic acid at codon 904 is replaced by histidine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious 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: Sep 29, 2024

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Relating variation to medicine