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NM_000535.7(PMS2):c.1422A>C (p.Ala474=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 12, 2020
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:
RCV000435605.2

Allele description [Variation Report for NM_000535.7(PMS2):c.1422A>C (p.Ala474=)]

NM_000535.7(PMS2):c.1422A>C (p.Ala474=)

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.1422A>C (p.Ala474=)
HGVS:
  • NC_000007.14:g.5987343T>G
  • NG_008466.1:g.26764A>C
  • NM_000535.7:c.1422A>CMANE SELECT
  • NM_001322003.2:c.1017A>C
  • NM_001322004.2:c.1017A>C
  • NM_001322005.2:c.1017A>C
  • NM_001322006.2:c.1266A>C
  • NM_001322007.2:c.1104A>C
  • NM_001322008.2:c.1104A>C
  • NM_001322009.2:c.1017A>C
  • NM_001322010.2:c.861A>C
  • NM_001322011.2:c.489A>C
  • NM_001322012.2:c.489A>C
  • NM_001322013.2:c.849A>C
  • NM_001322014.2:c.1422A>C
  • NM_001322015.2:c.1113A>C
  • NP_000526.2:p.Ala474=
  • NP_001308932.1:p.Ala339=
  • NP_001308933.1:p.Ala339=
  • NP_001308934.1:p.Ala339=
  • NP_001308935.1:p.Ala422=
  • NP_001308936.1:p.Ala368=
  • NP_001308937.1:p.Ala368=
  • NP_001308938.1:p.Ala339=
  • NP_001308939.1:p.Ala287=
  • NP_001308940.1:p.Ala163=
  • NP_001308941.1:p.Ala163=
  • NP_001308942.1:p.Ala283=
  • NP_001308943.1:p.Ala474=
  • NP_001308944.1:p.Ala371=
  • LRG_161t1:c.1422A>C
  • LRG_161:g.26764A>C
  • NC_000007.13:g.6026974T>G
  • NM_000535.5:c.1422A>C
  • NM_000535.6:c.1422A>C
  • NR_136154.1:n.1509A>C
Links:
dbSNP: rs1057522125
NCBI 1000 Genomes Browser:
rs1057522125
Molecular consequence:
  • NR_136154.1:n.1509A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000535.7:c.1422A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001322003.2:c.1017A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001322004.2:c.1017A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001322005.2:c.1017A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001322006.2:c.1266A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001322007.2:c.1104A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001322008.2:c.1104A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001322009.2:c.1017A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001322010.2:c.861A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001322011.2:c.489A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001322012.2:c.489A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001322013.2:c.849A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001322014.2:c.1422A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001322015.2:c.1113A>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001338065Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely benign
(Jan 12, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001338065.1

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

Last Updated: Sep 29, 2024