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NM_000535.7(PMS2):c.331C>G (p.Leu111Val) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
May 2, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV002256113.3

Allele description [Variation Report for NM_000535.7(PMS2):c.331C>G (p.Leu111Val)]

NM_000535.7(PMS2):c.331C>G (p.Leu111Val)

Gene:
PMS2:PMS1 homolog 2, mismatch repair system component [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p22.1
Genomic location:
Preferred name:
NM_000535.7(PMS2):c.331C>G (p.Leu111Val)
HGVS:
  • NC_000007.14:g.6003712G>C
  • NG_008466.1:g.10395C>G
  • NM_000535.7:c.331C>GMANE SELECT
  • NM_001322003.2:c.-75C>G
  • NM_001322004.2:c.-75C>G
  • NM_001322005.2:c.-75C>G
  • NM_001322006.2:c.331C>G
  • NM_001322007.2:c.35+260C>G
  • NM_001322008.2:c.35+260C>G
  • NM_001322009.2:c.-75C>G
  • NM_001322010.2:c.-75C>G
  • NM_001322011.2:c.-554C>G
  • NM_001322012.2:c.-554C>G
  • NM_001322013.2:c.-75C>G
  • NM_001322014.2:c.331C>G
  • NM_001322015.2:c.-154C>G
  • NP_000526.2:p.Leu111Val
  • NP_001308935.1:p.Leu111Val
  • NP_001308943.1:p.Leu111Val
  • LRG_161t1:c.331C>G
  • LRG_161:g.10395C>G
  • NC_000007.13:g.6043343G>C
  • NM_000535.5:c.331C>G
  • NR_136154.1:n.418C>G
Protein change:
L111V
Links:
dbSNP: rs864622232
NCBI 1000 Genomes Browser:
rs864622232
Molecular consequence:
  • NM_001322003.2:c.-75C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322004.2:c.-75C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322005.2:c.-75C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322009.2:c.-75C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322010.2:c.-75C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322011.2:c.-554C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322012.2:c.-554C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322013.2:c.-75C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322015.2:c.-154C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322007.2:c.35+260C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322008.2:c.35+260C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000535.7:c.331C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322006.2:c.331C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322014.2:c.331C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_136154.1:n.418C>G - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002530325Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)		Uncertain significance
(Jun 23, 2021) 		germlinecuration

Citation Link,

SCV005155572Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 2, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing, curation

Details of each submission

From Sema4, Sema4, SCV002530325.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Ambry Genetics, SCV005155572.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.L111V variant (also known as c.331C>G), located in coding exon 4 of the PMS2 gene, results from a C to G substitution at nucleotide position 331. The leucine at codon 111 is replaced by valine, an amino acid with highly similar 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 variant remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024