U.S. flag

An official website of the United States government

NM_000535.7(PMS2):c.240C>A (p.Phe80Leu) AND Lynch syndrome 4

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Apr 3, 2023
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:
RCV000663328.2

Allele description [Variation Report for NM_000535.7(PMS2):c.240C>A (p.Phe80Leu)]

NM_000535.7(PMS2):c.240C>A (p.Phe80Leu)

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.240C>A (p.Phe80Leu)
HGVS:
  • NC_000007.14:g.6003982G>T
  • NG_008466.1:g.10125C>A
  • NM_000535.7:c.240C>AMANE SELECT
  • NM_001322003.2:c.-166C>A
  • NM_001322004.2:c.-166C>A
  • NM_001322005.2:c.-166C>A
  • NM_001322006.2:c.240C>A
  • NM_001322007.2:c.25C>A
  • NM_001322008.2:c.25C>A
  • NM_001322009.2:c.-166C>A
  • NM_001322010.2:c.-166C>A
  • NM_001322011.2:c.-645C>A
  • NM_001322012.2:c.-645C>A
  • NM_001322013.2:c.-166C>A
  • NM_001322014.2:c.240C>A
  • NM_001322015.2:c.-245C>A
  • NP_000526.2:p.Phe80Leu
  • NP_001308935.1:p.Phe80Leu
  • NP_001308936.1:p.Arg9=
  • NP_001308937.1:p.Arg9=
  • NP_001308943.1:p.Phe80Leu
  • LRG_161t1:c.240C>A
  • LRG_161:g.10125C>A
  • NC_000007.13:g.6043613G>T
  • NM_000535.5:c.240C>A
  • NM_000535.6:c.240C>A
  • NR_136154.1:n.327C>A
Protein change:
F80L
Links:
dbSNP: rs143162541
NCBI 1000 Genomes Browser:
rs143162541
Molecular consequence:
  • NM_001322003.2:c.-166C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322004.2:c.-166C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322005.2:c.-166C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322009.2:c.-166C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322010.2:c.-166C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322011.2:c.-645C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322012.2:c.-645C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322013.2:c.-166C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322015.2:c.-245C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000535.7:c.240C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322006.2:c.240C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322014.2:c.240C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_136154.1:n.327C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001322007.2:c.25C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001322008.2:c.25C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Lynch syndrome 4 (LYNCH4)
Synonyms:
Colorectal cancer, hereditary nonpolyposis, type 4; Hereditary non-polyposis colorectal cancer, type 4
Identifiers:
MONDO: MONDO:0013699; MedGen: C1838333; Orphanet: 144; OMIM: 614337

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000786600Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))		Uncertain significance
(Jun 4, 2018) 		unknownclinical testing

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf,

Citation Link,

SCV004019760Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Uncertain significance
(Apr 3, 2023) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000786600.2

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

From Myriad Genetics, Inc., SCV004019760.1

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

Description

This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.

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

Last Updated: Oct 8, 2024