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NM_000535.7(PMS2):c.1012C>G (p.Pro338Ala) AND Mismatch repair cancer syndrome 1

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV001249242.1

Allele description [Variation Report for NM_000535.7(PMS2):c.1012C>G (p.Pro338Ala)]

NM_000535.7(PMS2):c.1012C>G (p.Pro338Ala)

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.1012C>G (p.Pro338Ala)
HGVS:
  • NC_000007.14:g.5989932G>C
  • NG_008466.1:g.24175C>G
  • NM_000535.7:c.1012C>GMANE SELECT
  • NM_001322003.2:c.607C>G
  • NM_001322004.2:c.607C>G
  • NM_001322005.2:c.607C>G
  • NM_001322006.2:c.988+2041C>G
  • NM_001322007.2:c.694C>G
  • NM_001322008.2:c.694C>G
  • NM_001322009.2:c.607C>G
  • NM_001322010.2:c.583+2041C>G
  • NM_001322011.2:c.79C>G
  • NM_001322012.2:c.79C>G
  • NM_001322013.2:c.439C>G
  • NM_001322014.2:c.1012C>G
  • NM_001322015.2:c.703C>G
  • NP_000526.2:p.Pro338Ala
  • NP_001308932.1:p.Pro203Ala
  • NP_001308933.1:p.Pro203Ala
  • NP_001308934.1:p.Pro203Ala
  • NP_001308936.1:p.Pro232Ala
  • NP_001308937.1:p.Pro232Ala
  • NP_001308938.1:p.Pro203Ala
  • NP_001308940.1:p.Pro27Ala
  • NP_001308941.1:p.Pro27Ala
  • NP_001308942.1:p.Pro147Ala
  • NP_001308943.1:p.Pro338Ala
  • NP_001308944.1:p.Pro235Ala
  • LRG_161t1:c.1012C>G
  • LRG_161:g.24175C>G
  • NC_000007.13:g.6029563G>C
  • NM_000535.5:c.1012C>G
  • NM_000535.6:c.1012C>G
  • NR_136154.1:n.1099C>G
Protein change:
P147A
Links:
dbSNP: rs876660508
NCBI 1000 Genomes Browser:
rs876660508
Molecular consequence:
  • NM_001322006.2:c.988+2041C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322010.2:c.583+2041C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000535.7:c.1012C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322003.2:c.607C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322004.2:c.607C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322005.2:c.607C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322007.2:c.694C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322008.2:c.694C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322009.2:c.607C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322011.2:c.79C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322012.2:c.79C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322013.2:c.439C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322014.2:c.1012C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322015.2:c.703C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_136154.1:n.1099C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Mismatch repair cancer syndrome 1 (MMRCS1)
Synonyms:
BRAIN TUMOR-POLYPOSIS SYNDROME 1; BTP1 SYNDROME; CHILDHOOD CANCER SYNDROME; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010159; MedGen: C5399763; Orphanet: 252202; OMIM: 276300

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001423179GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV001423179.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpretted as Uncertain significance and reported on 03-14-2019 by Lab or GTR ID Credit Valley Hospital Department of Laboratory Medicine. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: Sep 29, 2024