NM_000535.7(PMS2):c.214_215insAAGTTTCA (p.Gly72fs) AND Lynch syndrome 4

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 18, 2023
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:: RCV003449835.1

Allele description [Variation Report for NM_000535.7(PMS2):c.214_215insAAGTTTCA (p.Gly72fs)]

NM_000535.7(PMS2):c.214_215insAAGTTTCA (p.Gly72fs)

Gene:

PMS2:PMS1 homolog 2, mismatch repair system component [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

7p22.1

Genomic location:

Preferred name:

NM_000535.7(PMS2):c.214_215insAAGTTTCA (p.Gly72fs)

HGVS:

NC_000007.14:g.6004007_6004008insTGAAACTT
NG_008466.1:g.10099_10100insAAGTTTCA
NM_000535.7:c.214_215insAAGTTTCAMANE SELECT
NM_001322003.2:c.-192_-191insAAGTTTCA
NM_001322004.2:c.-192_-191insAAGTTTCA
NM_001322005.2:c.-192_-191insAAGTTTCA
NM_001322006.2:c.214_215insAAGTTTCA
NM_001322007.2:c.-2_-1insAAGTTTCA
NM_001322008.2:c.-2_-1insAAGTTTCA
NM_001322009.2:c.-192_-191insAAGTTTCA
NM_001322010.2:c.-192_-191insAAGTTTCA
NM_001322011.2:c.-671_-670insAAGTTTCA
NM_001322012.2:c.-671_-670insAAGTTTCA
NM_001322013.2:c.-192_-191insAAGTTTCA
NM_001322014.2:c.214_215insAAGTTTCA
NM_001322015.2:c.-271_-270insAAGTTTCA
NP_000526.2:p.Gly72fs
NP_001308935.1:p.Gly72fs
NP_001308943.1:p.Gly72fs
LRG_161t1:c.214_215insAAGTTTCA
LRG_161:g.10099_10100insAAGTTTCA
NC_000007.13:g.6043638_6043639insTGAAACTT
NM_000535.5:c.214_215insAAGTTTCA
NM_000535.6:c.214_215insAAGTTTCA
NR_136154.1:n.301_302insAAGTTTCA

Protein change:

G72fs

Links:

dbSNP: rs1785419483

NCBI 1000 Genomes Browser:

rs1785419483

Molecular consequence:

NM_001322003.2:c.-192_-191insAAGTTTCA - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322004.2:c.-192_-191insAAGTTTCA - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322005.2:c.-192_-191insAAGTTTCA - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322007.2:c.-2_-1insAAGTTTCA - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322008.2:c.-2_-1insAAGTTTCA - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322009.2:c.-192_-191insAAGTTTCA - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322010.2:c.-192_-191insAAGTTTCA - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322011.2:c.-671_-670insAAGTTTCA - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322012.2:c.-671_-670insAAGTTTCA - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322013.2:c.-192_-191insAAGTTTCA - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322015.2:c.-271_-270insAAGTTTCA - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000535.7:c.214_215insAAGTTTCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322006.2:c.214_215insAAGTTTCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322014.2:c.214_215insAAGTTTCA - frameshift variant - [Sequence Ontology: SO:0001589]
NR_136154.1:n.301_302insAAGTTTCA - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

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uncharacterized protein C16orf46 homolog isoform X3 [Sus scrofa]
uncharacterized protein C16orf46 homolog isoform X3 [Sus scrofa]
gi|1191892754|ref|XP_020952709.1|

Protein
Mus musculus ectonucleotide pyrophosphatase/phosphodiesterase 5 (Enpp5), transcr...
Mus musculus ectonucleotide pyrophosphatase/phosphodiesterase 5 (Enpp5), transcript variant 3, mRNA
gi|1045559356|ref|NM_001329618.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004188669	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Sep 18, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004188669

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Pathogenic
(Sep 18, 2023)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Myriad Genetics, Inc., SCV004188669.1

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

Description

This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 2, 2024

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