NM_000535.7(PMS2):c.1121AGC[1] (p.Gln375del) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 2, 2018
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:: RCV000780623.1

Allele description [Variation Report for NM_000535.7(PMS2):c.1121AGC[1] (p.Gln375del)]

NM_000535.7(PMS2):c.1121AGC[1] (p.Gln375del)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

7p22.1

Genomic location:

Preferred name:

NM_000535.7(PMS2):c.1121AGC[1] (p.Gln375del)

HGVS:

NC_000007.14:g.5989819CTG[1]
NG_008466.1:g.24284AGC[1]
NM_000535.6:c.1124_1126delAGC
NM_000535.7:c.1121AGC[1]MANE SELECT
NM_001322003.2:c.716AGC[1]
NM_001322004.2:c.716AGC[1]
NM_001322005.2:c.716AGC[1]
NM_001322006.2:c.988+2153_988+2155del
NM_001322007.2:c.803AGC[1]
NM_001322008.2:c.803AGC[1]
NM_001322009.2:c.716AGC[1]
NM_001322010.2:c.583+2153_583+2155del
NM_001322011.2:c.188AGC[1]
NM_001322012.2:c.188AGC[1]
NM_001322013.2:c.548AGC[1]
NM_001322014.2:c.1121AGC[1]
NM_001322015.2:c.812AGC[1]
NP_000526.2:p.Gln375del
NP_001308932.1:p.Gln240del
NP_001308933.1:p.Gln240del
NP_001308934.1:p.Gln240del
NP_001308936.1:p.Gln269del
NP_001308937.1:p.Gln269del
NP_001308938.1:p.Gln240del
NP_001308940.1:p.Gln64del
NP_001308941.1:p.Gln64del
NP_001308942.1:p.Gln184del
NP_001308943.1:p.Gln375del
NP_001308944.1:p.Gln272del
LRG_161t1:c.1124_1126del
LRG_161:g.24284AGC[1]
NC_000007.13:g.6029449_6029451del
NC_000007.13:g.6029450CTG[1]
NM_000535.5:c.1124_1126del
NM_000535.5:c.1124_1126delAGC
NR_136154.1:n.1208AGC[1]

Protein change:

Q184del

Links:

dbSNP: rs1583334101

NCBI 1000 Genomes Browser:

rs1583334101

Molecular consequence:

NM_000535.7:c.1121AGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001322003.2:c.716AGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001322004.2:c.716AGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001322005.2:c.716AGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001322007.2:c.803AGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001322008.2:c.803AGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001322009.2:c.716AGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001322011.2:c.188AGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001322012.2:c.188AGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001322013.2:c.548AGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001322014.2:c.1121AGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001322015.2:c.812AGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001322006.2:c.988+2153_988+2155del - intron variant - [Sequence Ontology: SO:0001627]
NM_001322010.2:c.583+2153_583+2155del - intron variant - [Sequence Ontology: SO:0001627]
NR_136154.1:n.1208AGC[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000918051	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Jan 2, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000918051

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Jan 2, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000918051.1

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

Description

Variant summary: The PMS2 c.1124_1126delAGC (p.Gln375del) variant involves the deletion of 3 nucleotides. One in silico tool predicts a damaging outcome for this variant. This variant is absent in 277072 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

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

Last Updated: Oct 20, 2024

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