NM_000179.3(MSH6):c.2240T>C (p.Leu747Pro) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 9, 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:: RCV002420181.2

Allele description [Variation Report for NM_000179.3(MSH6):c.2240T>C (p.Leu747Pro)]

NM_000179.3(MSH6):c.2240T>C (p.Leu747Pro)

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.2240T>C (p.Leu747Pro)

HGVS:

NC_000002.12:g.47800223T>C
NG_007111.1:g.22077T>C
NM_000179.3:c.2240T>CMANE SELECT
NM_001281492.2:c.1850T>C
NM_001281493.2:c.1334T>C
NM_001281494.2:c.1334T>C
NM_001406795.1:c.2336T>C
NM_001406796.1:c.2240T>C
NM_001406797.1:c.1943T>C
NM_001406798.1:c.2240T>C
NM_001406799.1:c.1715T>C
NM_001406800.1:c.2240T>C
NM_001406801.1:c.1943T>C
NM_001406802.1:c.2336T>C
NM_001406803.1:c.2240T>C
NM_001406804.1:c.2162T>C
NM_001406805.1:c.1943T>C
NM_001406806.1:c.1715T>C
NM_001406807.1:c.1715T>C
NM_001406808.1:c.2240T>C
NM_001406809.1:c.2240T>C
NM_001406811.1:c.1334T>C
NM_001406812.1:c.1334T>C
NM_001406813.1:c.2246T>C
NM_001406814.1:c.1334T>C
NM_001406815.1:c.1334T>C
NM_001406816.1:c.1334T>C
NM_001406818.1:c.1943T>C
NM_001406819.1:c.1943T>C
NM_001406820.1:c.1943T>C
NM_001406821.1:c.1943T>C
NM_001406822.1:c.1943T>C
NM_001406823.1:c.1334T>C
NM_001406824.1:c.1943T>C
NM_001406825.1:c.1943T>C
NM_001406826.1:c.2072T>C
NM_001406827.1:c.1943T>C
NM_001406828.1:c.1943T>C
NM_001406829.1:c.1334T>C
NM_001406830.1:c.1943T>C
NP_000170.1:p.Leu747Pro
NP_000170.1:p.Leu747Pro
NP_001268421.1:p.Leu617Pro
NP_001268422.1:p.Leu445Pro
NP_001268423.1:p.Leu445Pro
NP_001393724.1:p.Leu779Pro
NP_001393725.1:p.Leu747Pro
NP_001393726.1:p.Leu648Pro
NP_001393727.1:p.Leu747Pro
NP_001393728.1:p.Leu572Pro
NP_001393729.1:p.Leu747Pro
NP_001393730.1:p.Leu648Pro
NP_001393731.1:p.Leu779Pro
NP_001393732.1:p.Leu747Pro
NP_001393733.1:p.Leu721Pro
NP_001393734.1:p.Leu648Pro
NP_001393735.1:p.Leu572Pro
NP_001393736.1:p.Leu572Pro
NP_001393737.1:p.Leu747Pro
NP_001393738.1:p.Leu747Pro
NP_001393740.1:p.Leu445Pro
NP_001393741.1:p.Leu445Pro
NP_001393742.1:p.Leu749Pro
NP_001393743.1:p.Leu445Pro
NP_001393744.1:p.Leu445Pro
NP_001393745.1:p.Leu445Pro
NP_001393747.1:p.Leu648Pro
NP_001393748.1:p.Leu648Pro
NP_001393749.1:p.Leu648Pro
NP_001393750.1:p.Leu648Pro
NP_001393751.1:p.Leu648Pro
NP_001393752.1:p.Leu445Pro
NP_001393753.1:p.Leu648Pro
NP_001393754.1:p.Leu648Pro
NP_001393755.1:p.Leu691Pro
NP_001393756.1:p.Leu648Pro
NP_001393757.1:p.Leu648Pro
NP_001393758.1:p.Leu445Pro
NP_001393759.1:p.Leu648Pro
LRG_219t1:c.2240T>C
LRG_219:g.22077T>C
LRG_219p1:p.Leu747Pro
NC_000002.11:g.48027362T>C
NM_000179.2:c.2240T>C
NR_176256.1:n.1102T>C
NR_176257.1:n.2329T>C
NR_176258.1:n.2329T>C
NR_176259.1:n.2329T>C
NR_176261.1:n.2329T>C

Protein change:

L445P

Molecular consequence:

NM_000179.3:c.2240T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001281492.2:c.1850T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001281493.2:c.1334T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001281494.2:c.1334T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406795.1:c.2336T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406796.1:c.2240T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406797.1:c.1943T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406798.1:c.2240T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406799.1:c.1715T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406800.1:c.2240T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406801.1:c.1943T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406802.1:c.2336T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406803.1:c.2240T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406804.1:c.2162T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406805.1:c.1943T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406806.1:c.1715T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406807.1:c.1715T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406808.1:c.2240T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406809.1:c.2240T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406811.1:c.1334T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406812.1:c.1334T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406813.1:c.2246T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406814.1:c.1334T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406815.1:c.1334T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406816.1:c.1334T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406818.1:c.1943T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406819.1:c.1943T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406820.1:c.1943T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406821.1:c.1943T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406822.1:c.1943T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406823.1:c.1334T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406824.1:c.1943T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406825.1:c.1943T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406826.1:c.2072T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406827.1:c.1943T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406828.1:c.1943T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406829.1:c.1334T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406830.1:c.1943T>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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gi|553116626|gb|AYCK01010146.1||gnl AYCK01|Poecilia_formosa-5.1.2-159.16

Nucleotide
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gi|167889894|gb|EU214524.1|

Nucleotide
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Scaphyglottis punctulata voucher MW 102 maturase K (matK) gene, partial cds; chloroplast
gi|167889900|gb|EU214527.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002725479	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 9, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002725479

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 9, 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, SCV002725479.2

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

Description

The p.L747P variant (also known as c.2240T>C), located in coding exon 4 of the MSH6 gene, results from a T to C substitution at nucleotide position 2240. The leucine at codon 747 is replaced by proline, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. 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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