NM_002439.5(MSH3):c.1037C>T (p.Pro346Leu) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 4, 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:: RCV002391104.2

Allele description [Variation Report for NM_002439.5(MSH3):c.1037C>T (p.Pro346Leu)]

NM_002439.5(MSH3):c.1037C>T (p.Pro346Leu)

Gene:

MSH3:mutS homolog 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q14.1

Genomic location:

Preferred name:

NM_002439.5(MSH3):c.1037C>T (p.Pro346Leu)

HGVS:

NC_000005.10:g.80674992C>T
NG_016607.2:g.25518C>T
NM_002439.5:c.1037C>TMANE SELECT
NP_002430.3:p.Pro346Leu
NC_000005.9:g.79970811C>T
NG_016607.1:g.25518C>T
NM_002439.3:c.1037C>T
NM_002439.4:c.1037C>T

Protein change:

P346L

Links:

dbSNP: rs773569755

NCBI 1000 Genomes Browser:

rs773569755

Molecular consequence:

NM_002439.5:c.1037C>T - 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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Commiphora sp. JB-2012 internal transcribed spacer 1, partial sequence; 5.8S rib...
Commiphora sp. JB-2012 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence
gi|385153124|gb|JN882711.1|

Nucleotide
Mus musculus immediate early response 3 (Ier3), mRNA
Mus musculus immediate early response 3 (Ier3), mRNA
gi|118130957|ref|NM_133662.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002701823	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 4, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002701823

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 4, 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, SCV002701823.2

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

Description

The c.1037C>T (p.P346L) alteration is located in exon 7 (coding exon 7) of the MSH3 gene. This alteration results from a C to T substitution at nucleotide position 1037, causing the proline (P) at amino acid position 346 to be replaced by a leucine (L). Based on insufficient or conflicting 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

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